ClinVar Miner

List of variants reported as pathogenic for Holocarboxylase synthetase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00003
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	rs772791252	0.00002

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