List of variants reported as likely pathogenic for fumaric aciduria by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.151C>T (p.Arg51Trp)	rs778678782	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val)	rs776806414	0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala)	rs372505976	0.00001
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	rs121913122
NM_000143.4(FH):c.127C>T (p.Arg43Ter)	rs200496951
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.1A>C (p.Met1Leu)	rs776806414
NM_000143.4(FH):c.40del (p.Leu14fs)
NM_000143.4(FH):c.555+5G>C	rs1553341582
NM_000143.4(FH):c.593del (p.Ala198fs)
NM_000143.4(FH):c.739-2A>G	rs1553341174
NM_000143.4(FH):c.904+1G>A	rs1553341148
NM_000143.4(FH):c.952C>T (p.His318Tyr)	rs398123168

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