ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic for cystic fibrosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 504
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter) rs1799061745 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg) rs397508214 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) rs397508522 0.00001
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) rs755968404 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
NC_000007.13:g.(?_117144294)_(117254777_?)dup
NC_000007.13:g.(?_117170943)_(117171255_?)del
NC_000007.13:g.(?_117170943)_(117243859_?)dup
NC_000007.13:g.(?_117199476)_(117199720_?)del
NC_000007.13:g.(?_117234961)_(117235122_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)del
NC_000007.13:g.(?_117282468)_(117288374_?)del
NC_000007.14:g.(?_117509024)_(117509152_?)dup
NC_000007.14:g.(?_117530889)_(117540356_?)del
NC_000007.14:g.(?_117548631)_(117548835_?)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) rs75053309
NM_000492.4(CFTR):c.1116G>T (p.Gln372His) rs1584789514
NM_000492.4(CFTR):c.1117-2A>G rs1554381596
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
NM_000492.4(CFTR):c.1171_1209+6del
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+2T>A
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
NM_000492.4(CFTR):c.1210-1G>C rs397508178
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1244del (p.Asn415fs)
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs) rs749854099
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu) rs1799216615
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) rs1584793633
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.1415dup (p.Met472fs) rs1554384343
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter) rs1799418948
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter) rs200626971
NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile) rs1799421850
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)
NM_000492.4(CFTR):c.1584+1G>T rs397508230
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>A rs121908800
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter) rs55928397
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.4(CFTR):c.1767-1G>A rs1554389241
NM_000492.4(CFTR):c.1767-2A>G
NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1801del (p.Ile601fs) rs1792031758
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1822del (p.Glu608fs)
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr) rs2116030305
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter) rs1792033327
NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) rs1584812217
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1970del (p.Arg657fs) rs2116030992
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter) rs1792036942
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
NM_000492.4(CFTR):c.2241del (p.Ile748fs)
NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
NM_000492.4(CFTR):c.2379del (p.Val794fs)
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter) rs1792049376
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter) rs1457971953
NM_000492.4(CFTR):c.2429del (p.Arg810fs) rs1057516236
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter) rs1792051187
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2483dup (p.Asp828fs) rs1057517276
NM_000492.4(CFTR):c.2490+827_2620-3551del
NM_000492.4(CFTR):c.2491-2A>C rs397508386
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter) rs1584776437
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter) rs1792100143
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter) rs1792246412
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter) rs397508421
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2824del (p.Ile942fs)
NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
NM_000492.4(CFTR):c.2854del (p.Met952fs) rs1057517032
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-2A>T
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs) rs1554391454
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2986dup (p.Gln996fs) rs1554391491
NM_000492.4(CFTR):c.2988+1G>C rs75096551
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3389_3402del (p.Gly1130fs)
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)
NM_000492.4(CFTR):c.3468+1G>A rs1554392798
NM_000492.4(CFTR):c.3468+1G>T rs1554392798
NM_000492.4(CFTR):c.3469-1G>C
NM_000492.4(CFTR):c.3469-2A>C
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.3469-52_3717+5032dup
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter) rs1057516609
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter) rs121908763
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3661_3662del (p.Glu1221fs)
NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter) rs759116351
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3718-5_3725del rs2116166586
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter) rs1792935619
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs) rs1057517404
NM_000492.4(CFTR):c.3873+1G>T rs143570767
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-2A>C rs1554396384
NM_000492.4(CFTR):c.3874-2A>G rs1554396384
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter) rs1793110279
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.4(CFTR):c.3963+1G>C rs672601314
NM_000492.4(CFTR):c.3963+1G>T
NM_000492.4(CFTR):c.3963+2T>G rs397508650
NM_000492.4(CFTR):c.3964-1_3964delinsTT
NM_000492.4(CFTR):c.396del (p.Ile132fs) rs1798854379
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
NM_000492.4(CFTR):c.4023del (p.Asp1341fs)
NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4046del (p.Gly1349fs) rs1793342111
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs) rs1554379846
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4199del (p.Cys1400fs) rs1554397593
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter) rs397508718
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+43_580-354del
NM_000492.4(CFTR):c.490-1G>C
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
NM_000492.4(CFTR):c.506dup (p.Ser169fs) rs1554380311
NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1005T>G
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter) rs1057516232
NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.578_579+5del rs397508760
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.4(CFTR):c.657dup (p.Gln220fs) rs1554380465
NM_000492.4(CFTR):c.662del (p.Ala221fs) rs2116676645
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter) rs1800082
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter) rs1554380515
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.743+2T>C rs1584787119
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter) rs1798959540
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter) rs1296578005
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter) rs1199914684
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.4(CFTR):c.869+1G>C rs1330431481
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.870-1G>C rs1351058559
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs) rs1057516387
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu) rs2116683801
NM_000492.4(CFTR):c.941G>T (p.Gly314Val) rs75763344
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) rs1204521684
NM_000492.4(CFTR):c.962del (p.Ser321fs)
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186

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