ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 47
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HGVS dbSNP
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.3(CFTR):c.1210-2_1210-1delAG rs1562894926
NM_000492.3(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.3(CFTR):c.1328_1329AT[1] (p.Asp443_Ile444insTer) rs397508190
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1680-877G>T rs397508261
NM_000492.3(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.3(CFTR):c.2573del (p.Ser858fs) rs1562908997
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.2988+1G>T rs75096551
NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.3(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.3(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.3(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.3(CFTR):c.3874-2A>G rs1554396384
NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+2T>C rs193922526
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.870-2A>G rs1290078234
NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) rs193922533

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