ClinVar Miner

List of variants reported as likely pathogenic for Fumarase deficiency by Baylor Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
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.1097G>A (p.Ser366Asn) rs863224004
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.1290del (p.Phe430fs)
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.1391-2A>T rs863224008
NM_000143.4(FH):c.1483G>T (p.Glu495Ter)
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.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.839del (p.Gly280fs)

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