ClinVar Miner

List of variants studied for Isovaleryl-CoA dehydrogenase deficiency by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002225.5(IVD):c.457-2A>G	rs771914739	0.00001
NM_002225.5(IVD):c.516TGT[1] (p.Val174del)	rs1566936030

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