List of variants reported as pathogenic for biotinidase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9

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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.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00007
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00002
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	rs397514364	0.00001
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684

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