ClinVar Miner

List of variants in gene FH reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NC_000001.11:g.241502088_241502097del rs143840817
NM_000143.3(FH):c.-10C>T rs998842505
NM_000143.3(FH):c.-116G>A rs529496738
NM_000143.3(FH):c.-17C>T rs202081538
NM_000143.3(FH):c.-3A>G rs202145941
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+292T>C rs150089431
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-13C>T rs752468689
NM_000143.3(FH):c.1237-13_1237-12insTT rs1553340725
NM_000143.3(FH):c.1237-9C>T rs767413280
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1305G>A (p.Val435=) rs772415507
NM_000143.3(FH):c.133-3T>C rs1553341989
NM_000143.3(FH):c.1391-158A>T rs116598415
NM_000143.3(FH):c.1391-285A>G rs11809211
NM_000143.3(FH):c.1428C>T (p.His476=) rs199887605
NM_000143.3(FH):c.1434T>C (p.Asn478=) rs786202199
NM_000143.3(FH):c.180A>G (p.Leu60=) rs1573888502
NM_000143.3(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.3(FH):c.306G>A (p.Ala102=) rs142283468
NM_000143.3(FH):c.312T>C (p.Ala104=) rs1311053776
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.379-214A>G rs137857651
NM_000143.3(FH):c.477T>C (p.Asn159=) rs372913738
NM_000143.3(FH):c.50C>T (p.Ala17Val) rs111548093
NM_000143.3(FH):c.639G>A (p.Lys213=) rs377222193
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.669A>G (p.Lys223=) rs1573883183
NM_000143.3(FH):c.6C>T (p.Tyr2=) rs199971078
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.739-13_739-11del rs771766378
NM_000143.3(FH):c.739-200G>A rs137943762
NM_000143.3(FH):c.739-240G>A rs191906371
NM_000143.3(FH):c.78C>T (p.Pro26=) rs1029677665
NM_000143.3(FH):c.816C>T (p.Leu272=) rs775368701
NM_000143.3(FH):c.904+47G>A rs145209119

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