ClinVar Miner

List of variants studied for Holocarboxylase synthetase deficiency by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001

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