List of variants in gene RPGRIP1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)	rs137853911	0.00051
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)	rs190490019	0.00024
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)	rs201384449	0.00006
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)	rs1064797181
NM_020366.4(RPGRIP1):c.1612-3C>A	rs1594204748
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)	rs1057519200
NM_020366.4(RPGRIP1):c.3746A>G (p.Asp1249Gly)	rs767010058
NM_020366.4(RPGRIP1):c.85+5C>A	rs1594369617
NM_020366.4(RPGRIP1):c.906+2T>G	rs1594180201

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.