ClinVar Miner

List of variants reported as likely pathogenic for Beta-hydroxyisobutyryl-CoA deacylase deficiency

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Total variants: 5
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NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757

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