ClinVar Miner

List of variants in gene CFTR reported as pathogenic for not provided

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Total variants: 97
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HGVS dbSNP
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) rs387906360
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.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1083delG (p.Trp361Cysfs) rs387906375
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1234_1238delGCAAA (p.Ala412Thrfs) rs3034796
NM_000492.3(CFTR):c.1297_1303delTTCTCAC (p.Ser434Leufs) rs397508186
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) rs397508189
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1393-1G>A rs397508200
NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) rs121908805
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs) rs397508205
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) rs77101217
NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del) rs121908745
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1680-886A>G rs397508266
NM_000492.3(CFTR):c.1692delA (p.Asp565Metfs) rs193922505
NM_000492.3(CFTR):c.1703delT (p.Leu568Cysfs) rs397508274
NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) rs397508296
NM_000492.3(CFTR):c.1766+2T>A rs1554389062
NM_000492.3(CFTR):c.1766+3A>G rs397508298
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) rs121909045
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2051_2052delAAinsG (p.Lys684Serfs) rs121908799
NM_000492.3(CFTR):c.2052delA (p.Lys684Asnfs) rs121908746
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2083_2084insG (p.Glu695Glyfs) rs397508339
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.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) rs121908810
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) rs397508360
NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) rs75961395
NM_000492.3(CFTR):c.2619+1G>A rs1554389836
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2658-2A>G rs1554390958
NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) rs79633941
NM_000492.3(CFTR):c.273+1G>A rs121908791
NM_000492.3(CFTR):c.274-1G>A rs121908792
NM_000492.3(CFTR):c.2810dupT (p.Val938Glyfs) rs193922510
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.2988G>A (p.Gln996=) rs121908797
NM_000492.3(CFTR):c.313delA (p.Ile105Serfs) rs121908801
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
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.3485G>T (p.Arg1162Leu) rs1800120
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.3528delC (p.Lys1177Serfs) rs78984783
NM_000492.3(CFTR):c.3530delA (p.Lys1177Serfs) rs397508579
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765
NM_000492.3(CFTR):c.3744delA (p.Lys1250Argfs) rs121908784
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3808del (p.Asp1270Metfs) rs763843966
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3889dupT (p.Ser1297Phefs) rs121908808
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3999delG (p.Lys1334Serfs) rs886042527
NM_000492.3(CFTR):c.4058del (p.Leu1353Terfs)
NM_000492.3(CFTR):c.442delA (p.Ile148Leufs) rs121908770
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.49_50dupTT (p.Trp19Alafs) rs397508714
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.579+1G>T rs77188391
NM_000492.3(CFTR):c.579+3A>G rs397508761
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.743+1G>A rs397508791
NM_000492.3(CFTR):c.803delA (p.Asn268Ilefs) rs121908772
NM_000492.3(CFTR):c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs) rs796065332
NM_000492.3(CFTR):c.850dupA (p.Met284Asnfs) rs786204693
NM_000492.3(CFTR):c.869+1G>C
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.948delT (p.Phe316Leufs) rs121908744
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340
NM_000492.3:c.51delC

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