ClinVar Miner

List of variants reported as uncertain significance for Biotinidase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	rs1553654186

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