ClinVar Miner

List of variants in gene CFTR reported as pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) rs77409459
NM_000492.3(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
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.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1116+1G>A rs397508158
NM_000492.3(CFTR):c.1117-1G>A rs797045160
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.11C>A (p.Ser4Ter) rs397508173
NM_000492.3(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1393-2A>G rs397508201
NM_000492.3(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.3(CFTR):c.1466C>A (p.Ser489Ter) rs397508211
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.1516_1518ATC[1] (p.Ile507del) rs121908745
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1543_1544TA[1] (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.3(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.3(CFTR):c.1584+1G>A rs397508230
NM_000492.3(CFTR):c.164+1G>T rs397508243
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.1705T>G (p.Tyr569Asp) rs397508276
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.1792_1798del (p.Lys598fs) rs397508303
NM_000492.3(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
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.2052delA rs121908746
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
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.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.3(CFTR):c.223C>T (p.Arg75Ter) rs121908749
NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) rs121908810
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) rs397508360
NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
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.2583del (p.Phe861fs) rs397508399
NM_000492.3(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) rs79633941
NM_000492.3(CFTR):c.273+1G>A rs121908791
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.274-1G>A rs121908792
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.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.2988G>A (p.Gln996=) rs121908797
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530
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.3587C>G (p.Ser1196Ter) rs121908763
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.366T>A (p.Tyr122Ter) rs79660178
NM_000492.3(CFTR):c.3744del (p.Lys1250fs) rs121908784
NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) rs121908789
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3873+1G>A rs143570767
NM_000492.3(CFTR):c.3873+2T>C rs146795445
NM_000492.3(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.3(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.3(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.579+1G>T rs77188391
NM_000492.3(CFTR):c.579+5G>A rs78440224
NM_000492.3(CFTR):c.580-1G>T rs121908793
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.3(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.3(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.3(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340

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