ClinVar Miner

List of variants reported as pathogenic for Fumarase deficiency

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Total variants: 44
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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.698G>A (p.Arg233His) rs121913123 0.00003
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) rs768182640 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NC_000001.10:g.(?_241661108)_(242431558_?)del
NC_000001.10:g.(?_241661128)_(242034263_?)del
NC_000001.11:g.(?_241497557)_(241504245_?)del
NC_000001.11:g.(?_241497557)_(241519785_?)del
NC_000001.11:g.(?_241497603..241519755_?)del
NC_000001.11:g.(?_241497818)_(241502580_?)del
NC_000001.11:g.(?_241497818)_(241504255_?)del
NC_000001.11:g.(?_241497818)_(241519732_?)del
NC_000001.11:g.(?_241505993)_(241506183_?)del
NC_000001.11:g.(?_241505997)_(241506174_?)del
NC_000001.11:g.(?_241519581)_(241519732_?)del
NC_000001.11:g.(?_241519585)_(241519728_?)del
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1082del (p.Asn361fs) rs1553341012
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) rs121913119
NM_000143.4(FH):c.1108+1G>A rs1057517734
NM_000143.4(FH):c.1165_1174del (p.Gly389fs) rs1573879313
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1391-1G>C rs863223978
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.555+1G>A rs1375252870
NM_000143.4(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.793G>A (p.Ala265Thr) rs387906545
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168

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