ClinVar Miner

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

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Gene type:
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Total variants: 45
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HGVS dbSNP
NG_016465.4:g.144084_151285del7202
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) rs77409459
NM_000492.3(CFTR):c.1019_1020TC[3] (p.Phe342fs) rs387906360
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1117-1G>A rs797045160
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.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1393-1G>A rs397508200
NM_000492.3(CFTR):c.1516_1518ATC[1] (p.Ile507del) rs121908745
NM_000492.3(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.3(CFTR):c.1680-886A>G rs397508266
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.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) rs397508393
NM_000492.3(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.2657+1_2657+2insA rs1554390866
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.273+1G>A rs121908791
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765
NM_000492.3(CFTR):c.3717+1G>A rs750558115
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) rs121909015
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.579+1G>T rs77188391
NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340

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