ClinVar Miner

List of variants reported as pathogenic for Holocarboxylase synthetase deficiency by Counsyl

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Total variants: 3
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NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252

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