List of variants reported as likely pathogenic for Biotinidase deficiency by Revvity Omics, Revvity

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Total variants: 4

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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.1207T>C (p.Cys403Arg)	rs397514412	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001

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