List of variants reported as pathogenic for biotinidase deficiency by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.695A>G (p.Asp232Gly)	rs28934601	0.00006
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	rs104893692	0.00002
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)	rs1204990361
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	rs672601248
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)	rs1210441433
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684

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