ClinVar Miner

List of variants reported as benign for Holocarboxylase synthetase deficiency by Nilou-Genome Lab

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Total variants: 7
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HGVS dbSNP
NM_001352514.2(HLCS):c.*40A>G rs77014096
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1438-36G>A rs2073425
NM_001352514.2(HLCS):c.1893-46G>T rs2073421
NM_001352514.2(HLCS):c.1960+117A>T
NM_001352514.2(HLCS):c.2122-30G>A rs2073420
NM_001352514.2(HLCS):c.2450+136C>T rs9977769

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