List of variants in gene VPS51 studied for pontocerebellar hypoplasia, type 13

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_013265.4(VPS51):c.32C>T (p.Pro11Leu)	rs747134833	0.00009
NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys)	rs1203009966	0.00001
NM_013265.4(VPS51):c.1173_1182del (p.Ala392fs)
NM_013265.4(VPS51):c.1421_1423del (p.Phe474del)	rs752863502
NM_013265.4(VPS51):c.1878+42G>A	rs375414539
NM_013265.4(VPS51):c.2144_2145del (p.Val715fs)
NM_013265.4(VPS51):c.2232del (p.Asp745fs)	rs1590815040
NM_013265.4(VPS51):c.419CCA[1] (p.Thr141del)	rs1565313895
NM_013265.4(VPS51):c.868G>C (p.Glu290Gln)

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.