List of variants reported as uncertain significance for biotinidase deficiency by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)	rs397514409	0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	rs771537277	0.00001
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	rs397514376

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