List of variants reported as pathogenic for Biotinidase deficiency by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00010
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	rs28934601	0.00005
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.