ClinVar Miner

List of variants in gene FH reported as likely benign for Fumarase deficiency

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Gene type:
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Total variants: 62
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HGVS dbSNP
NM_000143.3(FH):c.*102T>C rs200093224
NM_000143.3(FH):c.*221_*222del rs112946286
NM_000143.3(FH):c.*266A>G rs113667027
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1066T>C (p.Leu356=) rs1157405003
NM_000143.3(FH):c.1072T>C (p.Leu358=) rs918902822
NM_000143.3(FH):c.1086A>G (p.Glu362=) rs1553341008
NM_000143.3(FH):c.1109-7C>T rs1060504079
NM_000143.3(FH):c.1119C>T (p.Asn373=) rs542014575
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-10_1237-9dup rs1553340717
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.1237-15CTCA[4] rs750898743
NM_000143.3(FH):c.1237-5C>T rs200926050
NM_000143.3(FH):c.1237-7C>T rs376260223
NM_000143.3(FH):c.1237-9C>T rs767413280
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1308G>A (p.Val436=) rs201535626
NM_000143.3(FH):c.1314C>T (p.Ile438=) rs140873869
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
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.1461C>T (p.Ile487=) rs377091029
NM_000143.3(FH):c.1482A>G (p.Ala494=) rs201559643
NM_000143.3(FH):c.1503A>G (p.Val501=) rs1553340502
NM_000143.3(FH):c.153G>A (p.Arg51=) rs757002779
NM_000143.3(FH):c.228G>A (p.Thr76=) rs373586584
NM_000143.3(FH):c.228G>C (p.Thr76=) rs373586584
NM_000143.3(FH):c.270C>T (p.Thr90=) rs748852152
NM_000143.3(FH):c.27G>A (p.Ala9=) rs983362570
NM_000143.3(FH):c.288T>C (p.Phe96=) rs747348623
NM_000143.3(FH):c.306G>A (p.Ala102=) rs142283468
NM_000143.3(FH):c.33G>A (p.Ser11=) rs200542051
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.357A>C (p.Ala119=) rs767209674
NM_000143.3(FH):c.379-10T>G rs201020261
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.399T>C (p.Asn133=) rs376056309
NM_000143.3(FH):c.39C>T (p.Pro13=) rs1060504077
NM_000143.3(FH):c.420A>G (p.Val140=) rs1180706892
NM_000143.3(FH):c.444G>A (p.Gln148=) rs928534157
NM_000143.3(FH):c.48G>T (p.Arg16=) rs1468361143
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.525G>A (p.Val175=) rs1553341592
NM_000143.3(FH):c.531C>G (p.Pro177=) rs202056137
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.540T>C (p.His180=) rs766280573
NM_000143.3(FH):c.552C>T (p.Ser184=) rs377660762
NM_000143.3(FH):c.556-7C>T rs780483420
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.678A>G (p.Ala226=) rs757078832
NM_000143.3(FH):c.684C>T (p.Ile228=) rs1384151924
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.3(FH):c.894T>C (p.Ala298=) rs372099505
NM_000143.3(FH):c.905-10T>G rs1060504080
NM_000143.3(FH):c.957C>T (p.Asp319=) rs146751488
NM_000143.3(FH):c.981C>T (p.Ala327=) rs1060504078

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