CFTR- France & CFTR-NGS catalog have retrieved 98 REPEATS, which are displayed below:



CFTR-France & CFTR-NGS Variants listing:
#Exon/intron Name (HGVS) Legacy name Class in CFTR-France Report in CFTR-NGS Report in CFTR-France MAF (GnomAD) Splicing prediction (SpliceAI)
Intron 1 c.53+3384delA not reportedAsymptomatic:1
7e-06 AG: 0.00 (29)
AL: 0.00 (-31)
DG: 0.00 (43)
DL: 0.00 (47)
Intron 1 c.53+3600dupT not reportedCFTR-RD:1
0.000589 AG: 0.00 (17)
AL: 0.00 (25)
DG: 0.00 (-33)
DL: 0.00 (-25)
Intron 1 c.53+8923dupA not reportedSuspicion of CF:1
0.000187 AG: 0.00 (-4)
AL: 0.00 (13)
DG: 0.00 (-50)
DL: 0.00 (12)
Intron 1 c.54-3950dupT not reportedSuspicion of CF:1
- -
Intron 1 c.54-5422dupT not reportedAsymptomatic:11
CF:7
CFTR-RD:12
Infertility:1
Pending (NBS):10
Suspicion of CF:7
0.007614 AG: 0.00 (32)
AL: 0.00 (22)
DG: 0.00 (22)
DL: 0.00 (16)
Intron 1 c.54-7344dupT not reportedAsymptomatic:1
Suspicion of CF:1
0.007666 AG: 0.00 (-36)
AL: 0.00 (-16)
DG: 0.00 (-5)
DL: 0.00 (-36)
Intron 1 c.54-8089dupT not reportedAsymptomatic:13
CF:13
CFTR-RD:11
Pending (NBS):13
Suspicion of CF:13
0.130053 AG: 0.00 (31)
AL: 0.00 (41)
DG: 0.00 (-48)
DL: 0.00 (33)
Intron 1 c.54-11104dupA not reportedSuspicion of CF:1
2.8e-05 AG: 0.00 (4)
AL: 0.00 (-6)
DG: 0.00 (-9)
DL: 0.00 (-3)
Intron 1 c.54-2489_54-2482dup8 not reportedSuspicion of CF:1
0.026059 AG: 0.00 (-28)
AL: 0.00 (3)
DG: 0.00 (-15)
DL: 0.00 (0)
Intron 1 c.54-2484_54-2482dupAAA not reportedSuspicion of CF:2
0.000655 -
Intron 2 c.164+410dupA not reportedAsymptomatic:1
CF:2
CFTR-RD:4
0.14979 AG: 0.00 (2)
AL: 0.00 (14)
DG: 0.00 (-26)
DL: 0.00 (13)
Intron 2 c.164+507dupT not reportedAsymptomatic:1
CF:1
CFTR-RD:2
0.011745 AG: 0.00 (35)
AL: 0.00 (37)
DG: 0.00 (37)
DL: 0.00 (16)
Intron 2 c.164+409_164+410dupAA not reportedAsymptomatic:2
CFTR-RD:3
Suspicion of CF:2
0.188819 -
Intron 3 c.273+4309dupA not reportedAsymptomatic:22
CF:13
CFTR-RD:20
Infertility:1
Pending (NBS):17
Suspicion of CF:13
0.535081 AG: 0.00 (-43)
AL: 0.00 (-33)
DG: 0.00 (-38)
DL: 0.00 (-34)
Intron 3 c.273+5039dupT not reportedAsymptomatic:4
CF:2
CFTR-RD:2
Pending (NBS):2
Suspicion of CF:3
0.104937 AG: 0.00 (44)
AL: 0.00 (45)
DG: 0.00 (44)
DL: 0.00 (49)
Intron 3 c.273+7101delT not reportedCF:2
0.00119 AG: 0.00 (-7)
AL: 0.00 (-25)
DG: 0.00 (-8)
DL: 0.00 (-27)
Intron 3 c.274-6492dupA not reportedAsymptomatic:12
CF:6
CFTR-RD:12
Pending (NBS):9
Suspicion of CF:7
0.024286 AG: 0.00 (25)
AL: 0.00 (-13)
DG: 0.00 (25)
DL: 0.00 (36)
Intron 3 c.274-7505dupT not reportedAsymptomatic:19
CF:11
CFTR-RD:16
Pending (NBS):17
Suspicion of CF:9
0.232013 AG: 0.00 (41)
AL: 0.00 (21)
DG: 0.00 (-1)
DL: 0.00 (21)
Intron 3 c.274-10617dupT not reportedSuspicion of CF:2
0.019693 AG: 0.00 (44)
AL: 0.00 (-48)
DG: 0.00 (-5)
DL: 0.00 (-20)
Intron 4 c.489+240dupT not reportedAsymptomatic:1
0.00048 AG: 0.00 (0)
AL: 0.00 (1)
DG: 0.00 (0)
DL: 0.00 (1)
Intron 6 c.743+136dupT not reportedAsymptomatic:3
CF:1
CFTR-RD:6
Pending (NBS):5
Suspicion of CF:3
- -
Intron 6 c.744-33GATT[4] VUSCFTR-RD:1
- -
Intron 6 c.744-33GATT[6] TTGA repeats non disease-causingAsymptomatic:12
CF:281
CFTR-RD:259
Fetal bowel anomalies:2
Pending:41
- -
Intron 6 c.744-33GATT[7] TTGA repeats non disease-causingAsymptomatic:7
CF:226
CFTR-RD:253
Fetal bowel anomalies:1
Pending:30
- -
Intron 6 c.744-33GATT[8] TTGA repeats non disease-causingCF:5
CFTR-RD:18
Pending:7
- -
Intron 6 c.744-9_744-6delGATT TTGA repeats not reportedAsymptomatic:15
CF:14
CFTR-RD:13
Pending (NBS):15
Suspicion of CF:16
7e-06 AG: 0.05 (6)
AL: 0.01 (2)
DG: 0.00 (6)
DL: 0.00 (34)
Intron 6 c.743+135_743+136dupTT not reportedSuspicion of CF:1
- AG: 0.00 (30)
AL: 0.00 (-50)
DG: 0.00 (30)
DL: 0.00 (-21)
Intron 7 c.870-668dupT not reportedCF:1
CFTR-RD:1
0.050266 AG: 0.00 (28)
AL: 0.00 (26)
DG: 0.00 (0)
DL: 0.00 (-1)
Intron 9 c.1210-12T[3] 1342-11TTT>G disease-causing - -
Intron 9 c.1210-12T[5] poly-T tract variations disease-causingAsymptomatic:1
CF:5
CFTR-RD:61
Pending:3
- -
Intron 9 c.1210-12T[6] VUS - -
Intron 9 c.1210-12T[7] poly-T tract variations non disease-causingAsymptomatic:17
CF:252
CFTR-RD:233
Fetal bowel anomalies:7
Pending:50
- -
Intron 9 c.1210-12T[8] VUS - -
Intron 9 c.1210-12T[9] poly-T tract variations ; 1342-13G/T non disease-causingAsymptomatic:8
CF:246
CFTR-RD:184
Fetal bowel anomalies:8
Pending:34
- -
Intron 9 c.1210-12T[11] VUS - -
Intron 9 c.1210-34TG[9] non disease-causingCFTR-RD:1
Pending:2
- -
Intron 9 c.1210-2832dupT not reportedCFTR-RD:1
0.040107 AG: 0.00 (42)
AL: 0.00 (44)
DG: 0.00 (17)
DL: 0.00 (15)
Intron 9 c.1210-34TG[10] 1342-12(GT)n non disease-causingAsymptomatic:2
CF:16
CFTR-RD:56
Pending:4
- -
Intron 9 c.1210-34TG[11] 1342-12(GT)n non disease-causingCF:14
CFTR-RD:50
Pending:2
- -
Intron 9 c.1210-34TG[12] 1342-12(GT)n non disease-causingAsymptomatic:2
CF:1
CFTR-RD:21
Pending:2
- -
Intron 9 c.1210-34TG[13] 1342-11TTT>G non disease-causingCFTR-RD:3
- -
Intron 9 c.1210-34_1210-6TG[8]T[7] TG8T7 non disease-causing - -
Intron 9 c.1210-34_1210-6TG[9]T[7] TG9T7 non disease-causing - -
Intron 9 c.1210-34_1210-6TG[9]T[9] TG9T9 non disease-causingCF:5
CFTR-RD:26
Pending:9
- -
Intron 9 c.1210-34_1210-6TG[10]T[7] TG10T7 non disease-causingAsymptomatic:22
CF:73
CFTR-RD:241
Pending:32
- -
Intron 9 c.1210-34_1210-6TG[10]T[8] TG10T8 VUSCF:1
CFTR-RD:1
- -
Intron 9 c.1210-34_1210-6TG[10]T[9] TG10T9 non disease-causingAsymptomatic:26
CF:161
CFTR-RD:454
Fetal bowel anomalies:2
Pending:61
- -
Intron 9 c.1210-34_1210-6TG[11]T[5] TG11T5 VUSAsymptomatic:18
CF:9
CFTR-RD:135
Fetal bowel anomalies:3
Pending:7
- -
Intron 9 c.1210-34_1210-6TG[11]T[7] TG11T7 non disease-causingAsymptomatic:22
CF:110
CFTR-RD:265
Fetal bowel anomalies:1
Pending:30
- -
Intron 9 c.1210-34_1210-6TG[11]T[9] TG11T9 non disease-causingAsymptomatic:2
CF:5
CFTR-RD:22
- -
Intron 9 c.1210-34_1210-6TG[12]T[3] TG12T3 disease-causingCF:1
CFTR-RD:1
- -
Intron 9 c.1210-34_1210-6TG[12]T[5] TG12T5 disease-causingAsymptomatic:13
CF:17
CFTR-RD:369
Fetal bowel anomalies:1
Pending:16
- -
Intron 9 c.1210-34_1210-6TG[12]T[6] TG12T6 VUSAsymptomatic:1
- -
Intron 9 c.1210-34_1210-6TG[12]T[7] TG12T7 non disease-causingAsymptomatic:7
CF:20
CFTR-RD:43
Pending:6
- -
Intron 9 c.1210-34_1210-6TG[12]T[9] TG12T9 non disease-causingCF:1
CFTR-RD:1
- -
Intron 9 c.1210-34_1210-6TG[13]T[5] TG13T5 disease-causingAsymptomatic:4
CF:6
CFTR-RD:77
Pending:3
- -
Intron 9 c.1210-34_1210-6TG[13]T[6] TG13T6 VUSCF:1
CFTR-RD:3
- -
Intron 9 c.1210-34_1210-6TG[13]T[7] TG13T7 non disease-causingCF:2
Fetal bowel anomalies:1
- -
Intron 9 c.1210-34_1210-6TG[15]T[7] TG15T7 VUSCFTR-RD:1
- -
Intron 9 c.1210-34_1210-6TG[9]T[11] TG9T11 VUSCFTR-RD:1
- -
Intron 10 c.1392+1520dupA not reportedAsymptomatic:5
CF:5
CFTR-RD:4
Pending (NBS):5
Suspicion of CF:4
0.035396 AG: 0.00 (-15)
AL: 0.00 (-3)
DG: 0.00 (-25)
DL: 0.00 (-11)
Intron 10 c.1393-2942_1393-2927del16 not reportedSuspicion of CF:1
- -
Intron 10 c.1393-2929_1393-2927delTTT not reportedAsymptomatic:1
- -
Intron 11 c.1585-953dupT not reportedAsymptomatic:3
CF:2
CFTR-RD:8
Pending (NBS):3
Suspicion of CF:5
0.000872 AG: 0.00 (16)
AL: 0.00 (15)
DG: 0.00 (-33)
DL: 0.00 (15)
Intron 11 c.1584+1000delT not reportedAsymptomatic:1
0.001404 AG: 0.00 (2)
AL: 0.00 (13)
DG: 0.00 (44)
DL: 0.00 (13)
Intron 11 c.1584+1000dupT not reportedAsymptomatic:1
CFTR-RD:2
Pending (NBS):2
Suspicion of CF:1
0.000238 AG: 0.00 (13)
AL: 0.00 (1)
DG: 0.00 (13)
DL: 0.00 (1)
Intron 11 c.1584+1664delT not reportedAsymptomatic:6
CF:1
CFTR-RD:5
Pending (NBS):1
Suspicion of CF:3
0.188008 AG: 0.00 (-17)
AL: 0.00 (-41)
DG: 0.00 (47)
DL: 0.00 (45)
Intron 11 c.1584+6959dupA not reportedAsymptomatic:14
CF:9
CFTR-RD:12
Pending (NBS):9
Suspicion of CF:6
0.109402 AG: 0.00 (49)
AL: 0.00 (28)
DG: 0.00 (-39)
DL: 0.00 (-46)
Intron 11 c.1585-2810delT not reportedAsymptomatic:2
CFTR-RD:2
Pending (NBS):2
0.00021 AG: 0.00 (47)
AL: 0.00 (1)
DG: 0.00 (-26)
DL: 0.00 (47)
Intron 11 c.1585-3710dupT not reportedCFTR-RD:1
- AG: 0.00 (28)
AL: 0.00 (-44)
DG: 0.00 (20)
DL: 0.00 (-1)
Intron 11 c.1585-4086delT not reportedAsymptomatic:7
CFTR-RD:5
Pending (NBS):3
Suspicion of CF:5
0 AG: 0.00 (50)
AL: 0.00 (42)
DG: 0.00 (-10)
DL: 0.00 (-6)
Intron 11 c.1585-4416dupC not reportedAsymptomatic:1
0.019245 AG: 0.00 (-7)
AL: 0.00 (-30)
DG: 0.00 (-12)
DL: 0.00 (-30)
Intron 11 c.1585-8054dupA not reportedAsymptomatic:19
CF:10
CFTR-RD:17
Infertility:1
Pending (NBS):15
Suspicion of CF:9
0.004612 AG: 0.00 (-13)
AL: 0.00 (40)
DG: 0.00 (-28)
DL: 0.00 (-22)
Intron 11 c.1584+10552dupA not reportedAsymptomatic:1
CFTR-RD:1
Suspicion of CF:1
0.020803 AG: 0.00 (-24)
AL: 0.00 (-42)
DG: 0.00 (-24)
DL: 0.00 (-18)
Intron 11 c.1584+12338dupT not reportedAsymptomatic:24
CF:18
CFTR-RD:20
Infertility:1
Pending (NBS):17
Suspicion of CF:29
0.411678 AG: 0.00 (37)
AL: 0.00 (35)
DG: 0.00 (37)
DL: 0.00 (-28)
Intron 11 c.1585-4087_1585-4086delTT not reportedAsymptomatic:1
CF:1
CFTR-RD:1
- -
Intron 11 c.1585-2813_1585-2810delTTTT not reportedAsymptomatic:2
CFTR-RD:1
- -
Intron 15 c.2619+2767dupA not reportedCFTR-RD:1
Pending (NBS):1
0.003788 AG: 0.00 (-27)
AL: 0.00 (28)
DG: 0.00 (-42)
DL: 0.00 (42)
Intron 15 c.2620-1307delT not reportedCFTR-RD:1
7e-06 AG: 0.00 (-13)
AL: 0.00 (-42)
DG: 0.00 (-13)
DL: 0.00 (50)
Intron 18 c.2989-81delA not reportedAsymptomatic:1
- -
Intron 18 c.2989-81dupA not reportedAsymptomatic:1
CFTR-RD:1
Pending (NBS):1
0.020464 AG: 0.00 (32)
AL: 0.00 (43)
DG: 0.00 (-46)
DL: 0.00 (-6)
Intron 18 c.2988+1465delT not reportedAsymptomatic:4
CF:1
Suspicion of CF:1
7e-06 AG: 0.00 (-19)
AL: 0.00 (43)
DG: 0.00 (-29)
DL: 0.00 (43)
Intron 18 c.2989-82_2989-81delAA not reportedAsymptomatic:1
- -
Intron 21 c.3468+1532dupT not reportedAsymptomatic:29
CF:18
CFTR-RD:23
Infertility:2
Pending (NBS):17
Suspicion of CF:19
0.99235 AG: 0.00 (22)
AL: 0.00 (13)
DG: 0.00 (-21)
DL: 0.00 (-31)
Intron 21 c.3468+5372delT not reportedAsymptomatic:5
CF:4
CFTR-RD:2
Suspicion of CF:3
2.8e-05 AG: 0.00 (-40)
AL: 0.00 (-43)
DG: 0.00 (12)
DL: 0.00 (-33)
Intron 21 c.3468+5371_3468+5372delTT not reportedCF:1
CFTR-RD:1
- -
Intron 22 c.3717+4799dupA not reportedAsymptomatic:1
CFTR-RD:1
Suspicion of CF:1
0.023251 AG: 0.00 (-15)
AL: 0.00 (14)
DG: 0.00 (-15)
DL: 0.00 (-21)
Intron 22 c.3717+5885dupT not reportedInfertility:1
Pending (NBS):1
Suspicion of CF:1
0.000844 AG: 0.00 (-2)
AL: 0.00 (42)
DG: 0.00 (-32)
DL: 0.00 (-30)
Intron 22 c.3718-4552dupA not reportedAsymptomatic:1
- AG: 0.00 (12)
AL: 0.00 (-32)
DG: 0.00 (-23)
DL: 0.00 (35)
Intron 22 c.3718-5203dupT not reportedAsymptomatic:14
CF:7
CFTR-RD:12
Infertility:1
Pending (NBS):10
Suspicion of CF:10
0.398895 AG: 0.00 (23)
AL: 0.00 (49)
DG: 0.00 (-3)
DL: 0.00 (-6)
Intron 22 c.3718-5607dupT not reportedAsymptomatic:2
CFTR-RD:1
0.007389 AG: 0.00 (23)
AL: 0.00 (0)
DG: 0.00 (23)
DL: 0.00 (-31)
Intron 22 c.3718-5204_3718-5203dupTT not reportedAsymptomatic:1
0.085426 -
Intron 23 c.3873+1477dupT not reportedAsymptomatic:1
0.053074 AG: 0.00 (-7)
AL: 0.00 (37)
DG: 0.00 (-7)
DL: 0.00 (-20)
Intron 23 c.3873+1837dupA not reportedAsymptomatic:1
0.053416 AG: 0.00 (-8)
AL: 0.00 (36)
DG: 0.00 (-36)
DL: 0.00 (-31)
Intron 23 c.3873+5101delA not reportedAsymptomatic:1
0 AG: 0.00 (15)
AL: 0.00 (29)
DG: 0.00 (33)
DL: 0.00 (5)
Intron 23 c.3873+5101dupA not reportedAsymptomatic:1
CFTR-RD:2
0.000432 AG: 0.00 (29)
AL: 0.00 (9)
DG: 0.00 (4)
DL: 0.00 (5)
Intron 24 c.3964-1161dupA not reportedCF:3
CFTR-RD:1
0.00863 AG: 0.00 (-1)
AL: 0.00 (23)
DG: 0.00 (-34)
DL: 0.00 (-30)
Intron 24 c.3964-2682dupA not reportedCFTR-RD:1
Suspicion of CF:1
- -





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