ClinVar Miner

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

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Total variants: 3

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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.2121+1G>A	rs1175936807	0.00003
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002

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