ClinVar Miner

List of variants studied for Holocarboxylase synthetase 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_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035

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