List of variants reported as pathogenic for Fumarase deficiency by OMIM

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Total variants: 8

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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.194A>G (p.Asp65Gly)	rs145116688	0.00001
NC_000001.11:g.(?_241497603..241519755_?)del
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)	rs121913119
NM_000143.4(FH):c.1293del (p.Glu432fs)	rs398123163
NM_000143.4(FH):c.1390+1G>T	rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.793G>A (p.Ala265Thr)	rs387906545

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