List of variants reported as likely benign for Fumarase deficiency

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.221_222del	rs112946286	0.01684
NM_000143.4(FH):c.904+47G>A	rs145209119	0.01502
NM_000143.4(FH):c.53C>T (p.Pro18Leu)	rs201887750	0.00597
NM_000143.4(FH):c.105G>A (p.Ser35=)	rs181655698	0.00066
NM_000143.4(FH):c.1299C>T (p.Asn433=)	rs201994824	0.00047
NM_000143.4(FH):c.739-10T>C	rs201971572	0.00013
NM_000143.4(FH):c.33G>C (p.Ser11=)	rs200542051	0.00010
NM_000143.4(FH):c.12A>G (p.Ala4=)	rs201277370	0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000143.4(FH):c.21C>T (p.Leu7=)	rs1263147931	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	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.414C>T (p.Leu138=)	rs540968725	0.00001
NM_000143.4(FH):c.771T>C (p.Tyr257=)	rs199909758	0.00001
NM_000143.4(FH):c.105G>C (p.Ser35=)	rs181655698
NM_000143.4(FH):c.1108+10T>C	rs201513242
NM_000143.4(FH):c.1237-14_1237-9dup	rs779985493
NM_000143.4(FH):c.1237-50TC[21]	rs144131869
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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