List of variants reported as uncertain significance for Retinitis pigmentosa 14

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)	rs527236117	0.00001
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp)	rs1761069157
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)	rs1761067394
NM_003322.6(TULP1):c.1113-9_1113delinsCATC	rs2150924300
NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln)	rs1768748235
NM_006445.4(PRPF8):c.5619+2T>C	rs1911406583

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.