List of variants in gene PRPH2 reported by Breakthrough Genomics, Breakthrough Genomics

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.-60C>T	rs144011444	0.00211
NM_000322.5(PRPH2):c.909C>T (p.Ser303=)	rs144111167	0.00049
NM_000322.5(PRPH2):c.*592A>T	rs573416213	0.00042
NM_000322.5(PRPH2):c.264A>C (p.Pro88=)	rs1294407459	0.00034
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)	rs760687443	0.00018
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)	rs61754402	0.00018
NM_000322.5(PRPH2):c.-166G>A	rs886061407	0.00017
NM_000322.5(PRPH2):c.300G>A (p.Pro100=)	rs150695654	0.00011
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)	rs759011231	0.00003
NM_000322.5(PRPH2):c.205G>T (p.Val69Leu)	rs558060514	0.00001

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.