List of variants reported as pathogenic for Holocarboxylase synthetase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	rs772791252	0.00003
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00003
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231	0.00001
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	rs771944310

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