ClinVar Miner

List of variants reported as likely pathogenic for Fumarase deficiency

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Total variants: 51
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HGVS dbSNP
NC_000001.11:g.(?_241508593)_(241513723_?)del
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.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.3(FH):c.1390+2T>C rs1558396285
NM_000143.3(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.3(FH):c.194A>G (p.Asp65Gly) rs145116688
NM_000143.3(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.3(FH):c.1A>G (p.Met1Val) rs776806414
NM_000143.3(FH):c.1A>T (p.Met1Leu) rs776806414
NM_000143.3(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.3(FH):c.2T>G (p.Met1Arg) rs201261794
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 rs750273092
NM_000143.3(FH):c.556-2A>T rs750273092
NM_000143.3(FH):c.738+2T>C rs1060500901
NM_000143.3(FH):c.739-2A>C rs1553341174
NM_000143.3(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.3(FH):c.844G>C (p.Gly282Arg) rs1573881629
NM_000143.3(FH):c.904+1G>A rs1553341148
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
NM_000143.4(FH):c.1037G>A (p.Gly346Asp)
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
NM_000143.4(FH):c.1109-1G>C
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)
NM_000143.4(FH):c.1205A>T (p.His402Leu)
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.2T>A (p.Met1Lys)
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.378+1G>A
NM_000143.4(FH):c.379-1G>C
NM_000143.4(FH):c.3G>A (p.Met1Ile)
NM_000143.4(FH):c.557G>A rs587782618
NM_000143.4(FH):c.563A>T (p.Asn188Ile)
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
NM_000143.4(FH):c.953A>T (p.His318Leu)

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