List of variants reported as pathogenic for biotinidase deficiency by Counsyl

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	rs190386869	0.00001
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	rs760612966
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	rs398123138
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	rs397514362
NM_001370658.1(BTD):c.992del (p.Thr331fs)	rs397514398

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