ClinVar Miner

List of variants reported as likely pathogenic for Holocarboxylase synthetase deficiency by Invitae

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Total variants: 5
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NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211

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