ClinVar Miner

List of variants in gene CFTR reported as pathogenic by Counsyl

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Gene type:
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Total variants: 58
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HGVS dbSNP
NM_000492.3(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.3(CFTR):c.1117-1G>A rs797045160
NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1340del (p.Lys447fs) rs397508192
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.1477_1478del (p.Gln493fs) rs121908775
NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.3(CFTR):c.1584+1G>A rs397508230
NM_000492.3(CFTR):c.164+1G>T rs397508243
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.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.2017G>T (p.Gly673Ter) rs397508331
NM_000492.3(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) rs397508360
NM_000492.3(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.3(CFTR):c.2490+1G>A rs141158996
NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) rs397508393
NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.3(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) rs79633941
NM_000492.3(CFTR):c.274-2A>G rs397508426
NM_000492.3(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.3(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
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.3873+2T>C rs146795445
NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
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.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.3(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.3(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1019_1020TC[3] (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296
NM_000492.4(CFTR):c.1766+3A>G rs397508298
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778

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