ClinVar Miner

List of variants studied for Holocarboxylase synthetase deficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002

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