ClinVar Miner

List of variants in gene CFTR reported by Johns Hopkins Genomics,Johns Hopkins University

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Total variants: 103
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HGVS dbSNP
NM_000492.3(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) rs77409459
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) rs73215912
NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.3(CFTR):c.1210G>C (p.Gly404Arg) rs200899224
NM_000492.3(CFTR):c.1392+1G>A rs397508197
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
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.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.164+1G>A rs397508243
NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.3(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.1766+2T>C rs1554389062
NM_000492.3(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly) rs377447726
NM_000492.3(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.3(CFTR):c.2679G>T (p.Gly893=) rs397508419
NM_000492.3(CFTR):c.273+4A>G rs387906374
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
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.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.3(CFTR):c.3540del (p.Lys1180fs)
NM_000492.3(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765
NM_000492.3(CFTR):c.3659delC rs121908811
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.3(CFTR):c.3718-3T>G rs397508596
NM_000492.3(CFTR):c.3744del (p.Lys1250fs) rs121908784
NM_000492.3(CFTR):c.40A>G (p.Lys14Glu) rs397508673
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.490-1G>A rs397508734
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) rs775701644
NM_000492.3(CFTR):c.697C>G (p.Leu233Val) rs775713428
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.3(CFTR):c.76A>G (p.Lys26Glu) rs759726535
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)
NM_000492.4(CFTR):c.1153_1154TA[3] (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.1766+1G>A rs121908748
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile)
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2490+1G>T
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.2657+5G>A rs80224560
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val)
NM_000492.4(CFTR):c.2988+2T>C
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn)
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) rs1313341594
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.579+3A>G rs397508761
NM_000492.4(CFTR):c.586dup (p.Ala196fs) rs1584786892
NM_000492.4(CFTR):c.598T>G (p.Phe200Val) rs397508766
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783

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