List of variants reported as uncertain significance for Biotinidase deficiency by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	rs137877018	0.00010
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)	rs750598655
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)

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