List of variants reported as pathogenic for Brown-Vialetto-van Laere syndrome 1 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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)	rs267606687	0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)	rs267606684	0.00002
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)	rs267606686	0.00001
NM_033409.4(SLC52A3):c.1198-2A>C	rs754753126
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs)	rs794728004
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter)	rs267606683
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg)	rs797045190
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)	rs778363575
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu)	rs267606685
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr)	rs267606688

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.