ClinVar Miner

List of variants reported as likely benign for Fumarase deficiency by Invitae

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.21C>T (p.Leu7=) rs1263147931 0.00003
NM_000143.4(FH):c.1092A>G (p.Gly364=) rs1361977903 0.00001
NM_000143.4(FH):c.354T>C (p.Asn118=) rs1465574376 0.00001
NM_000143.4(FH):c.379-10T>G rs201020261 0.00001
NM_000143.4(FH):c.39C>T (p.Pro13=) rs1060504077 0.00001
NM_000143.4(FH):c.1108+10T>C rs201513242
NM_000143.4(FH):c.1330A>C (p.Arg444=) rs749266351
NM_000143.4(FH):c.1443C>T (p.Thr481=) rs780200136
NM_000143.4(FH):c.171T>C (p.Phe57=) rs1573888522
NM_000143.4(FH):c.285T>C (p.Ala95=) rs973577283
NM_000143.4(FH):c.420A>G (p.Val140=) rs1180706892
NM_000143.4(FH):c.729T>C (p.Thr243=) rs1573883071
NM_000143.4(FH):c.905-10T>G rs1060504080

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