ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
NM_000143.3(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.3(FH):c.1021G>A (p.Asp341Asn) rs11545655
NM_000143.3(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.3(FH):c.1108+1G>T rs1057517734
NM_000143.3(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.3(FH):c.1236+1G>A rs1131691249
NM_000143.3(FH):c.1236+1G>C rs1131691249
NM_000143.3(FH):c.1390+2T>C rs1558396285
NM_000143.3(FH):c.1391-1G>A rs863223978
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.1A>G (p.Met1Val) rs776806414
NM_000143.3(FH):c.1A>T (p.Met1Leu)
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.556-2A>G
NM_000143.3(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.3(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.3(FH):c.700A>G (p.Thr234Ala) rs372505976
NM_000143.3(FH):c.738+2T>C rs1060500901
NM_000143.3(FH):c.739-2A>C rs1553341174
NM_000143.3(FH):c.739-2A>G
NM_000143.3(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.3(FH):c.844G>C (p.Gly282Arg)
NM_000143.3(FH):c.904+1G>A
NM_000143.3(FH):c.923C>G (p.Ala308Gly) rs1057524385
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.935T>G (p.Phe312Cys) rs1553341046
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002

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