ClinVar Miner

List of variants studied for Fumarase deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414

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