ClinVar Miner

List of variants in gene CFTR reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 462
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HGVS dbSNP
CFTR, ALA445GLU
CFTR, GLN524HIS
CFTR, HIS1282TER
GRCh37/hg19 7q31.2(chr7:117141921-117159386)x1
NC_000007.13:g.(?_117144294)_(117144445_?)del
NC_000007.13:g.(?_117304732)_(117305628_?)del
NG_016465.4:g.144084_151285del
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) rs77409459
NM_000492.3(CFTR):c.1019_1020TC[3] (p.Phe342fs) rs387906360
NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.3(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1081del (p.Trp361fs) rs387906361
NM_000492.3(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.3(CFTR):c.1084_1088dup (p.Ser364fs) rs1562892359
NM_000492.3(CFTR):c.1089_1090CT[2] (p.Leu365fs) rs387906365
NM_000492.3(CFTR):c.1115del (p.Gln372fs) rs1562892387
NM_000492.3(CFTR):c.1116+1G>A rs397508158
NM_000492.3(CFTR):c.1116+1G>T rs397508158
NM_000492.3(CFTR):c.1117-1G>A rs797045160
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.1126C>T (p.Gln376Ter) rs1562892823
NM_000492.3(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.3(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.3(CFTR):c.1153_1154TA[3] (p.Asn386fs) rs121908785
NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.3(CFTR):c.1197del (p.Phe400fs) rs1562892895
NM_000492.3(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter) rs397508174
NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter) rs397508175
NM_000492.3(CFTR):c.1209+1G>A rs397508176
NM_000492.3(CFTR):c.1209+1G>T rs397508176
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1211_1392+1del rs1562894928
NM_000492.3(CFTR):c.1211delG rs1235397597
NM_000492.3(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.3(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.3(CFTR):c.13196C>T rs1554398510
NM_000492.3(CFTR):c.1324A>T (p.Lys442Ter)
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.3(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.3(CFTR):c.1358T>C (p.Leu453Ser) rs1562895128
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.1393-1G>A rs397508200
NM_000492.3(CFTR):c.1393-2A>G rs397508201
NM_000492.3(CFTR):c.1397C>A (p.Ser466Ter) rs121908805
NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) rs121908805
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.3(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.143_146ATCT[1] (p.Ser50fs) rs1562882755
NM_000492.3(CFTR):c.1466C>A (p.Ser489Ter) rs397508211
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) rs77101217
NM_000492.3(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) rs397508217
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1505T>C (p.Ile502Thr) rs397508222
NM_000492.3(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.3(CFTR):c.1519_1521delATC rs121908745
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1530_1531del (p.Ser511fs) rs1562898471
NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.3(CFTR):c.1543_1555del (p.Tyr515fs)
NM_000492.3(CFTR):c.1545_1546delTA rs121908776
NM_000492.3(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.3(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) rs121908754
NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.3(CFTR):c.1584+1G>A rs397508230
NM_000492.3(CFTR):c.164+1G>A rs397508243
NM_000492.3(CFTR):c.164+1G>T rs397508243
NM_000492.3(CFTR):c.164+2T>C rs121908800
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.164+4dup rs397508244
NM_000492.3(CFTR):c.1680-1G>A rs121908794
NM_000492.3(CFTR):c.1680-877G>T rs397508261
NM_000492.3(CFTR):c.1680-886A>G rs397508266
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
NM_000492.3(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006
NM_000492.3(CFTR):c.1687T>C (p.Tyr563His) rs121909006
NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.3(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.3(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276
NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1733_1734del (p.Leu578fs) rs1562907232
NM_000492.3(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) rs397508296
NM_000492.3(CFTR):c.1766+1G>A rs121908748
NM_000492.3(CFTR):c.1766+1G>C rs121908748
NM_000492.3(CFTR):c.1766+1G>T rs121908748
NM_000492.3(CFTR):c.1766+2T>A rs1554389062
NM_000492.3(CFTR):c.1766+3A>C rs397508298
NM_000492.3(CFTR):c.1766+3A>G rs397508298
NM_000492.3(CFTR):c.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.3(CFTR):c.1820_1903del84 rs121908777
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
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.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
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.1911del (p.Gln637fs) rs1554389296
NM_000492.3(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.3(CFTR):c.1936G>T (p.Gly646Ter) rs1562907873
NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) rs121909033
NM_000492.3(CFTR):c.1943del (p.Asp648fs) rs1481564133
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) rs121909045
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.3(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.3(CFTR):c.2051_2052dup (p.Gln685fs) rs121908746
NM_000492.3(CFTR):c.2052delA rs121908746
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) rs397508336
NM_000492.3(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.3(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.3(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) rs121908760
NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.3(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) rs121909023
NM_000492.3(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.3(CFTR):c.223C>T (p.Arg75Ter) rs121908749
NM_000492.3(CFTR):c.2241_2248del (p.Ile748fs) rs397508355
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) rs121908810
NM_000492.3(CFTR):c.2291del (p.Arg764fs) rs387906376
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) rs397508360
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.3(CFTR):c.2417_2418AT[5] (p.Ser809fs) rs387906359
NM_000492.3(CFTR):c.243del (p.Phe81fs) rs1562884046
NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) rs672601316
NM_000492.3(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.3(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.3(CFTR):c.2464G>T (p.Glu822Ter) rs397508378
NM_000492.3(CFTR):c.2476G>T (p.Glu826Ter) rs397508381
NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) rs121909018
NM_000492.3(CFTR):c.2490+1G>A rs141158996
NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) rs397508387
NM_000492.3(CFTR):c.2492_2619+1del rs1562908889
NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) rs397508393
NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) rs75961395
NM_000492.3(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
NM_000492.3(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.3(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.3(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.3(CFTR):c.2619+1G>A rs1554389836
NM_000492.3(CFTR):c.2620-2A>G rs1554390859
NM_000492.3(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.3(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.3(CFTR):c.2657+1_2657+2insA rs1554390866
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2658-1G>C rs397508416
NM_000492.3(CFTR):c.2658-2A>G rs1554390958
NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) rs79633941
NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) rs672601315
NM_000492.3(CFTR):c.271G>A (p.Gly91Arg) rs121908750
NM_000492.3(CFTR):c.273+1G>A rs121908791
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.273+4A>G rs387906374
NM_000492.3(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.3(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008
NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.3(CFTR):c.274-1G>A rs121908792
NM_000492.3(CFTR):c.274-2A>C rs397508426
NM_000492.3(CFTR):c.274-2A>G rs397508426
NM_000492.3(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.3(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.3(CFTR):c.2757C>G (p.Tyr919Ter)
NM_000492.3(CFTR):c.275_489+1del rs1562889180
NM_000492.3(CFTR):c.275_579+1del
NM_000492.3(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2812dup (p.Val938fs) rs1562911661
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) rs121909035
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.2879_2882del (p.Pro960fs) rs1562911739
NM_000492.3(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2908G>C (p.Gly970Arg) rs397508453
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.3(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) rs397508467
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.2988G>A (p.Gln996=) rs121908797
NM_000492.3(CFTR):c.2T>G (p.Met1Arg) rs397508476
NM_000492.3(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.3(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.3(CFTR):c.325_327delinsG (p.Tyr109fs) rs121908798
NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3421_3424dup (p.Thr1142fs) rs397508559
NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3468+5G>A rs1554392801
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.3(CFTR):c.3492dup (p.Lys1165Ter) rs387906379
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.3(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.3(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.3(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.3(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763
NM_000492.3(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.3(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3659delC rs121908811
NM_000492.3(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000492.3(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.3(CFTR):c.3717+1G>A rs750558115
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.3717G>A (p.Arg1239=) rs144781064
NM_000492.3(CFTR):c.3718-1G>A rs387906369
NM_000492.3(CFTR):c.3718-3T>G rs397508596
NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.3(CFTR):c.3728T>A (p.Leu1243Ter) rs1562923164
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3744del (p.Lys1250fs) rs121908784
NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.3(CFTR):c.3745G>C (p.Gly1249Arg) rs397508602
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.3(CFTR):c.3767dupC (p.Leu1258Phefs) rs387906370
NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) rs121908789
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
NM_000492.3(CFTR):c.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3808del (p.Asp1270fs) rs763843966
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met) rs77902683
NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) rs121909028
NM_000492.3(CFTR):c.3873+1G>A rs143570767
NM_000492.3(CFTR):c.3873+2T>C rs146795445
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) rs121909015
NM_000492.3(CFTR):c.3874-1G>A rs397508624
NM_000492.3(CFTR):c.3883_3886delATTT rs387906373
NM_000492.3(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.3(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.3(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3900dup (p.Arg1301Ter) rs1554396393
NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) rs121909042
NM_000492.3(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) rs121909010
NM_000492.3(CFTR):c.3963+1G>A rs672601314
NM_000492.3(CFTR):c.3963-78_4242+577del
NM_000492.3(CFTR):c.3966_4242+2del rs1562928854
NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.3(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.3(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.3(CFTR):c.3G>A (p.Met1Ile) rs397508657
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.3(CFTR):c.4036_4042del (p.Leu1346fs) rs397508662
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.3(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
NM_000492.3(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.3(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro)
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.3(CFTR):c.4127_4131del (p.Leu1376fs) rs1554397527
NM_000492.3(CFTR):c.4136+1G>A rs1562928997
NM_000492.3(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.3(CFTR):c.4147dupA (p.Ile1383Asnfs) rs397508685
NM_000492.3(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.3(CFTR):c.4195_4196CT[1] (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.424del (p.Ile142fs) rs387906363
NM_000492.3(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.3(CFTR):c.433del (p.Leu145fs) rs1562889382
NM_000492.3(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.3(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.3(CFTR):c.459_476del (p.Ala155_Ile160del) rs387906371
NM_000492.3(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.3(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.3(CFTR):c.483_484insCC (p.Lys162fs)
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.490-1G>T rs397508734
NM_000492.3(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.3(CFTR):c.49_50dupTT rs397508714
NM_000492.3(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.3(CFTR):c.4del (p.Gln2fs) rs1562876396
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.3(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.3(CFTR):c.53+1G>T rs397508746
NM_000492.3(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.543_546del (p.Leu183fs) rs397508750
NM_000492.3(CFTR):c.54_164del111 rs1562882675
NM_000492.3(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.579+1G>T rs77188391
NM_000492.3(CFTR):c.579+3A>G rs397508761
NM_000492.3(CFTR):c.579+5G>A rs78440224
NM_000492.3(CFTR):c.57G>A (p.Trp19Ter) rs397508762
NM_000492.3(CFTR):c.580-1G>T rs121908793
NM_000492.3(CFTR):c.580-2A>C rs193922730
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.3(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.3(CFTR):c.680T>G (p.Leu227Arg) rs397508782
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.3(CFTR):c.723_743+1del rs121908804
NM_000492.3(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.3(CFTR):c.743+1G>A rs397508791
NM_000492.3(CFTR):c.744-14_744-3del rs387906367
NM_000492.3(CFTR):c.744-?_1584+?dup
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.3(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.3(CFTR):c.803_804AT[1] (p.Ile269fs) rs121908773
NM_000492.3(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) rs672601317
NM_000492.3(CFTR):c.848_860delinsTG (p.Lys283fs) rs796065332
NM_000492.3(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.3(CFTR):c.860dup (p.Asn287fs) rs387906380
NM_000492.3(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.3(CFTR):c.866_870del (p.Arg289fs) rs1562891084
NM_000492.3(CFTR):c.869+1G>C rs1330431481
NM_000492.3(CFTR):c.869+1G>T rs1330431481
NM_000492.3(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.3(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.3(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
NP_000483.3(CFTR):p.Tyr1092Ter
NP_000483.3:p.Ser549Arg
Single allele

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