List of variants reported as uncertain significance for Fumarase deficiency by Invitae

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_000001.10:g.(?_241661118)_(241683032_?)dup
NC_000001.10:g.(?_241661122)_(241683028_?)dup
NC_000001.10:g.(?_241661128)_(242034263_?)dup
NM_000143.4(FH):c.1118A>T (p.Asn373Ile)	rs1060499643
NM_000143.4(FH):c.1130G>A (p.Cys377Tyr)	rs1553340880
NM_000143.4(FH):c.163G>A (p.Asp55Asn)	rs1660245455
NM_000143.4(FH):c.181A>C (p.Lys61Gln)	rs1660244612
NM_000143.4(FH):c.240G>C (p.Lys80Asn)	rs1573888362
NM_000143.4(FH):c.367G>C (p.Ala123Pro)	rs1660144128
NM_000143.4(FH):c.452T>C (p.Met151Thr)	rs1660099266
NM_000143.4(FH):c.776T>A (p.Met259Lys)	rs1407485828

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