ClinVar Miner

List of variants in gene CFTR reported as not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 376
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HGVS dbSNP
NM_000492.3(CFTR):c.*80T>G rs397508135
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.3(CFTR):c.1012A>G (p.Thr338Ala) rs397508142
NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1059A>C (p.Gln353His) rs1800087
NM_000492.3(CFTR):c.105dup (p.Asp36fs) rs397508149
NM_000492.3(CFTR):c.1069del (p.Ala357fs) rs397508151
NM_000492.3(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.3(CFTR):c.1081T>A (p.Trp361Arg) rs397508154
NM_000492.3(CFTR):c.1086T>A (p.Tyr362Ter) rs397508155
NM_000492.3(CFTR):c.1086T>G (p.Tyr362Ter) rs397508155
NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.3(CFTR):c.1106_1111dup (p.Asn369_Lys370dup) rs397508156
NM_000492.3(CFTR):c.110_111TA[1] (p.Tyr38fs) rs397508162
NM_000492.3(CFTR):c.1116+1G>C rs397508158
NM_000492.3(CFTR):c.1117-27_1117-26delTA rs397508159
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) rs73215912
NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.3(CFTR):c.1152del (p.Glu384fs) rs397508167
NM_000492.3(CFTR):c.1175T>C (p.Val392Ala) rs397508170
NM_000492.3(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.3(CFTR):c.1177del (p.Val392_Val393insTer) rs397508171
NM_000492.3(CFTR):c.1196C>A (p.Ala399Asp) rs146463120
NM_000492.3(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.3(CFTR):c.1209G>C (p.Glu403Asp) rs397508177
NM_000492.3(CFTR):c.1210-1G>C rs397508178
NM_000492.3(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.3(CFTR):c.1235del (p.Ala412fs) rs397508182
NM_000492.3(CFTR):c.131A>G (p.Asp44Gly) rs1800074
NM_000492.3(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.3(CFTR):c.1328_1329AT[1] (p.Asp443_Ile444insTer) rs397508190
NM_000492.3(CFTR):c.1331T>G (p.Ile444Ser) rs397508191
NM_000492.3(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.3(CFTR):c.1393-18G>A rs397508199
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1403T>C (p.Leu468Pro) rs397508202
NM_000492.3(CFTR):c.1405A>G (p.Met469Val) rs397508203
NM_000492.3(CFTR):c.1407G>T (p.Met469Ile) rs143218779
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.3(CFTR):c.1446dup (p.Lys483Ter) rs397508209
NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.3(CFTR):c.1478A>G (p.Gln493Arg) rs397508214
NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.3(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) rs397508220
NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.3(CFTR):c.1505T>C (p.Ile502Thr) rs397508222
NM_000492.3(CFTR):c.1510G>C (p.Glu504Gln) rs397508223
NM_000492.3(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.3(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.164+1G>T rs397508243
NM_000492.3(CFTR):c.164+2T>A rs121908800
NM_000492.3(CFTR):c.164+2T>C rs121908800
NM_000492.3(CFTR):c.164+3_164+4insT rs397508244
NM_000492.3(CFTR):c.164+9A>T rs397508245
NM_000492.3(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.3(CFTR):c.1694A>G (p.Asp565Gly) rs397508270
NM_000492.3(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.3(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.3(CFTR):c.1707T>A (p.Tyr569Ter) rs397508278
NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.3(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.3(CFTR):c.1714_1715del (p.Asp572fs) rs397508281
NM_000492.3(CFTR):c.1720C>T (p.Pro574Ser) rs397508283
NM_000492.3(CFTR):c.1726G>T (p.Gly576Ter) rs397508284
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.3(CFTR):c.1735G>T (p.Asp579Tyr) rs397508287
NM_000492.3(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.3(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.3(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.3(CFTR):c.1745C>G (p.Thr582Arg) rs397508293
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) rs397508293
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.1766+5G>A rs121908796
NM_000492.3(CFTR):c.1766+73T>G rs397508299
NM_000492.3(CFTR):c.1766G>C (p.Ser589Thr) rs397508300
NM_000492.3(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.3(CFTR):c.1786_1787del (p.Met595_Ala596insTer) rs397508301
NM_000492.3(CFTR):c.1798A>G (p.Arg600Gly) rs397508305
NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.3(CFTR):c.1802T>C (p.Ile601Thr) rs397508307
NM_000492.3(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.3(CFTR):c.1811C>G (p.Thr604Ser) rs397508308
NM_000492.3(CFTR):c.1823A>G (p.Glu608Gly) rs397508309
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1829T>C (p.Leu610Ser) rs397508311
NM_000492.3(CFTR):c.1837G>A (p.Ala613Thr) rs201978662
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser) rs397508313
NM_000492.3(CFTR):c.1859A>C (p.His620Pro) rs397508314
NM_000492.3(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1898T>C (p.Leu633Pro) rs397508318
NM_000492.3(CFTR):c.1909C>T (p.Gln637Ter) rs397508320
NM_000492.3(CFTR):c.1919_1920del (p.Asp639_Phe640insTer) rs397508322
NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter) rs397508323
NM_000492.3(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.3(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2045dup (p.Gln685fs) rs397508334
NM_000492.3(CFTR):c.2051_2052del (p.Lys684fs) rs121908746
NM_000492.3(CFTR):c.2074G>T (p.Glu692Ter) rs397508337
NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.3(CFTR):c.2156T>A (p.Leu719Ter) rs397508345
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2188G>T (p.Glu730Ter) rs397508349
NM_000492.3(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.3(CFTR):c.2204G>A (p.Arg735Lys) rs397508352
NM_000492.3(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.3(CFTR):c.2259C>G (p.Ser753Arg) rs201888075
NM_000492.3(CFTR):c.2297G>T (p.Arg766Met) rs397508363
NM_000492.3(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.3(CFTR):c.2346C>A (p.Asn782Lys) rs397508369
NM_000492.3(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.3(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.3(CFTR):c.2399C>G (p.Ala800Gly) rs397508373
NM_000492.3(CFTR):c.2411A>T (p.Glu804Val) rs397508374
NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly) rs397508375
NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly) rs377447726
NM_000492.3(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.3(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.3(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) rs397508381
NM_000492.3(CFTR):c.2488A>T (p.Lys830Ter) rs397508382
NM_000492.3(CFTR):c.2522C>G (p.Pro841Arg) rs397508392
NM_000492.3(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) rs397508397
NM_000492.3(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.3(CFTR):c.2596T>C (p.Cys866Arg) rs397508402
NM_000492.3(CFTR):c.259T>A (p.Phe87Ile) rs397508403
NM_000492.3(CFTR):c.259T>C (p.Phe87Leu) rs397508403
NM_000492.3(CFTR):c.2619+2T>A rs397508407
NM_000492.3(CFTR):c.2619+3A>G rs397508408
NM_000492.3(CFTR):c.2620-1G>T rs397508410
NM_000492.3(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.263T>C (p.Leu88Ser) rs397508412
NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.3(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.3(CFTR):c.266A>G (p.Tyr89Cys) rs397508418
NM_000492.3(CFTR):c.269T>C (p.Leu90Ser) rs397508421
NM_000492.3(CFTR):c.2723C>A (p.Thr908Asn) rs369521395
NM_000492.3(CFTR):c.274-2A>G rs397508426
NM_000492.3(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.3(CFTR):c.2754T>G (p.Ile918Met) rs397508429
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2776_2777del (p.Leu926fs) rs397508433
NM_000492.3(CFTR):c.2777del (p.Leu926fs) rs397508433
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.3(CFTR):c.2846A>G (p.His949Arg) rs397508444
NM_000492.3(CFTR):c.2846A>T (p.His949Leu) rs397508444
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2861A>C (p.His954Pro) rs397508446
NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) rs397508448
NM_000492.3(CFTR):c.287C>A (p.Ala96Glu) rs397508449
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.3(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.3(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.3(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.293A>C (p.Gln98Pro) rs397508464
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) rs397508467
NM_000492.3(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.2T>A (p.Met1Lys) rs397508476
NM_000492.3(CFTR):c.302T>G (p.Leu101Ter) rs397508484
NM_000492.3(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.3(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.3(CFTR):c.319_326del (p.Ile106_Ala107insTer) rs397508516
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.328del (p.Asp110fs) rs397508530
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.3(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.3(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) rs397508553
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys) rs397508558
NM_000492.3(CFTR):c.3419_3421del (p.Met1140del) rs397508557
NM_000492.3(CFTR):c.342_344GGA[1] (p.Glu116del) rs397508563
NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.3(CFTR):c.3439G>A (p.Val1147Ile) rs397508562
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) rs397508567
NM_000492.3(CFTR):c.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.3(CFTR):c.3469-2A>G rs397508570
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.3(CFTR):c.3481A>C (p.Ser1161Arg) rs397508574
NM_000492.3(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.3(CFTR):c.3497T>G (p.Phe1166Cys) rs397508577
NM_000492.3(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.3(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) rs201958172
NM_000492.3(CFTR):c.3592del (p.His1197_Val1198insTer) rs397508585
NM_000492.3(CFTR):c.3600A>G (p.Lys1200=) rs397508586
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.3(CFTR):c.364T>C (p.Tyr122His) rs397508592
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.3(CFTR):c.3717+45G>A rs145743767
NM_000492.3(CFTR):c.3717G>A (p.Arg1239=) rs144781064
NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.3(CFTR):c.3754A>C (p.Thr1252Pro) rs397508603
NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.3(CFTR):c.376G>A (p.Gly126Ser) rs397508606
NM_000492.3(CFTR):c.3777_3779ACT[1] (p.Leu1261del) rs397508610
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
NM_000492.3(CFTR):c.380T>G (p.Leu127Ter) rs397508611
NM_000492.3(CFTR):c.3812_3813GT[2] (p.Ser1273fs) rs397508612
NM_000492.3(CFTR):c.3822G>A (p.Trp1274Ter) rs397508613
NM_000492.3(CFTR):c.3829del (p.Ser1276_Ile1277insTer) rs397508614
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616
NM_000492.3(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.3(CFTR):c.3855del (p.Phe1286fs) rs397508618
NM_000492.3(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.3(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.3(CFTR):c.3873+33A>G rs397508622
NM_000492.3(CFTR):c.3874-1G>A rs397508624
NM_000492.3(CFTR):c.387del (p.Leu130fs) rs397508627
NM_000492.3(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636
NM_000492.3(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.3(CFTR):c.3918C>T (p.Pro1306=) rs1800132
NM_000492.3(CFTR):c.3920A>G (p.Tyr1307Cys) rs397508641
NM_000492.3(CFTR):c.3921T>A (p.Tyr1307Ter) rs397508642
NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643
NM_000492.3(CFTR):c.393del (p.Phe131fs) rs397508647
NM_000492.3(CFTR):c.3963+2T>A rs397508650
NM_000492.3(CFTR):c.3964-28G>A rs397508651
NM_000492.3(CFTR):c.3964-3C>G rs397508652
NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.3(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.3(CFTR):c.3982_3984delinsTT (p.Ile1328fs) rs397508655
NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln) rs397508656
NM_000492.3(CFTR):c.3G>T (p.Met1Ile) rs397508657
NM_000492.3(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286
NM_000492.3(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.3(CFTR):c.4025_4028dup (p.Cys1344fs) rs397508661
NM_000492.3(CFTR):c.4040_4041del (p.Ser1347fs) rs397508664
NM_000492.3(CFTR):c.4042del (p.His1348fs) rs397508665
NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) rs397508670
NM_000492.3(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.3(CFTR):c.410T>A (p.Leu137His) rs397508674
NM_000492.3(CFTR):c.4136+2T>G rs1562928998
NM_000492.3(CFTR):c.4139del (p.Thr1380fs) rs397508680
NM_000492.3(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.3(CFTR):c.4143C>A (p.Tyr1381Ter) rs397508683
NM_000492.3(CFTR):c.4163T>A (p.Leu1388Gln) rs397508688
NM_000492.3(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.3(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.3(CFTR):c.4201G>A (p.Glu1401Lys) rs397508696
NM_000492.3(CFTR):c.4201G>T (p.Glu1401Ter) rs397508696
NM_000492.3(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.3(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.445G>A (p.Gly149Arg) rs397508718
NM_000492.3(CFTR):c.451C>T (p.Gln151Ter) rs397508720
NM_000492.3(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.3(CFTR):c.455T>G (p.Met152Arg) rs397508722
NM_000492.3(CFTR):c.463G>C (p.Ala155Pro) rs397508723
NM_000492.3(CFTR):c.473G>C (p.Ser158Thr) rs397508725
NM_000492.3(CFTR):c.481T>A (p.Tyr161Asn) rs397508729
NM_000492.3(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.3(CFTR):c.482A>G (p.Tyr161Cys) rs397508730
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.489+2T>G rs397508732
NM_000492.3(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.3(CFTR):c.490-2A>G rs397508735
NM_000492.3(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.3(CFTR):c.494del (p.Thr164_Leu165insTer) rs397508737
NM_000492.3(CFTR):c.496A>G (p.Lys166Glu) rs397508738
NM_000492.3(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.3(CFTR):c.4_53+69del119ins299
NM_000492.3(CFTR):c.500T>G (p.Leu167Arg) rs397508741
NM_000492.3(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.3(CFTR):c.522_526del (p.Ile175fs) rs397508743
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) rs367850319
NM_000492.3(CFTR):c.54-1161_164+1603del2875
NM_000492.3(CFTR):c.54-13C>G rs397508749
NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.3(CFTR):c.550del (p.Leu184fs) rs397508752
NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) rs397508754
NM_000492.3(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.3(CFTR):c.574G>A (p.Asp192Asn) rs397508756
NM_000492.3(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.579+3A>T rs397508761
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.3(CFTR):c.597T>G (p.His199Gln) rs397508765
NM_000492.3(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.3(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.3(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.3(CFTR):c.625G>T (p.Ala209Ser) rs397508772
NM_000492.3(CFTR):c.627A>G (p.Ala209=) rs397508773
NM_000492.3(CFTR):c.642_643insT (p.Ile215fs) rs397508774
NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.3(CFTR):c.653T>A (p.Leu218Ter) rs397508777
NM_000492.3(CFTR):c.673T>C (p.Cys225Arg) rs397508780
NM_000492.3(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.3(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.3(CFTR):c.714del (p.Gly239_Leu240insTer) rs397508787
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.721G>A (p.Gly241Arg) rs397508789
NM_000492.3(CFTR):c.731T>A (p.Met244Lys) rs397508790
NM_000492.3(CFTR):c.741C>G (p.Tyr247Ter) rs1800082
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.3(CFTR):c.773del (p.Arg258fs) rs397508794
NM_000492.3(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.3(CFTR):c.80del (p.Gly27fs) rs397508798
NM_000492.3(CFTR):c.829T>A (p.Trp277Arg) rs397508800
NM_000492.3(CFTR):c.833_835AAG[1] (p.Glu279del) rs397508801
NM_000492.3(CFTR):c.842T>C (p.Met281Thr) rs397508802
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.870-1113_870-1110delGAAT rs397508809
NM_000492.3(CFTR):c.870-3T>G rs397508810
NM_000492.3(CFTR):c.874G>A (p.Glu292Lys) rs397508811
NM_000492.3(CFTR):c.877C>A (p.Leu293Met) rs397508812
NM_000492.3(CFTR):c.881_882del (p.Lys294fs) rs397508813
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.3(CFTR):c.913T>G (p.Phe305Val) rs201885470
NM_000492.3(CFTR):c.920G>A (p.Ser307Asn) rs397508817
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.3(CFTR):c.940G>C (p.Gly314Arg) rs397508819
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.980del (p.Leu327fs) rs397508823

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