ClinVar Miner

List of variants studied for Cystic fibrosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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ClinVar version:
Total variants: 404
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
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.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
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.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=) rs193922512 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 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.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 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.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter) rs397508777 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.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1081del (p.Trp361fs) rs387906361 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 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.1477C>T (p.Gln493Ter) rs77101217 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.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 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+3A>G rs397508298 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.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.234dup (p.Trp79fs) rs1189377616 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 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.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 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.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3808del (p.Asp1270fs) rs763843966 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs) rs1554397750 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 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.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) rs397508808 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)del
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del
NC_000007.13:g.(117120202_117144306)_(117188878_117199517)del
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del
NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del
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.(117175466_117176601)_(117199710_117227792)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)del
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del
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.(117243837_117246727)_(117254768_117267575)dup
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
NC_000007.13:g.(117246808_117250572)_(117251863_117254666)del
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.(117292986_117304741)_(117305619_117306961)del
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
NC_000007.13:g.(?_117120078)_(117308720_?)del
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer)
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) rs397508184
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs) rs749854099
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter) rs2115938731
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.164+1G>A rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) rs397508279
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1801del (p.Ile601fs) rs1792031758
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) rs1584812217
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
NM_000492.4(CFTR):c.1970del (p.Arg657fs) rs2116030992
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) rs397508368
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) rs387906359
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter) rs1792051187
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
NM_000492.4(CFTR):c.2490+1G>A rs141158996
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.2573del (p.Ser858fs) rs1562908997
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) rs121908750
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
NM_000492.4(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) rs397508453
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2989-2A>T rs193922515
NM_000492.4(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) rs1584821736
NM_000492.4(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA rs1554392248
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
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>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3540del (p.Lys1180fs) rs397508580
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-1G>A rs387906369
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.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
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.3883_3884insG (p.Ile1295fs) rs1793108213
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
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.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4046del (p.Gly1349fs) rs1793342111
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr) rs193922528
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
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.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
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.580-1G>T rs121908793
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.662del (p.Ala221fs) rs2116676645
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.743+4G>T rs193922530
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
NM_000492.4(CFTR):c.764del (p.Ile255fs)
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.941G>T (p.Gly314Val) rs75763344
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.987del (p.Gly330fs) rs397508824

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