List of variants reported as pathogenic for Holocarboxylase synthetase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
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.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	rs772791252	0.00002
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	rs119103227
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	rs771944310
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	rs1393866282
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231

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