ClinVar Miner

List of variants reported as likely pathogenic for Fumarase deficiency

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis) rs1659807516
NM_000143.4(FH):c.1169A>G (p.Asn390Ser) rs1178007598
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.1274A>T (p.Asp425Val) rs1038324354
NM_000143.4(FH):c.127C>T (p.Arg43Ter) rs200496951
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1391-1G>T
NM_000143.4(FH):c.1483G>T (p.Glu495Ter)
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.1A>T (p.Met1Leu) rs776806414
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs)
NM_000143.4(FH):c.32C>A (p.Ser11Ter)
NM_000143.4(FH):c.337del (p.Asp113fs)
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.40_41insG (p.Leu14fs)
NM_000143.4(FH):c.490del (p.Met164fs)
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.664T>C (p.Ser222Pro) rs1448268784
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.839del (p.Gly280fs)

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