ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)	rs149291867	0.00087
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)	rs748444836
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)	rs767700692

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