List of variants in gene RPGRIP1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.930+3A>G	rs150107283	0.00402
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)	rs186266220	0.00127
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)	rs372615343	0.00084
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)	rs190490019	0.00043
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)	rs368434311	0.00028
NM_020366.4(RPGRIP1):c.2367+19C>T	rs367769049	0.00025
NM_020366.4(RPGRIP1):c.1761T>C (p.Ser587=)	rs559041866	0.00014
NM_020366.4(RPGRIP1):c.491-3T>C	rs749376395	0.00011
NM_020366.4(RPGRIP1):c.375A>G (p.Gln125=)	rs372557648	0.00009
NM_020366.4(RPGRIP1):c.2367+24C>T	rs370401840	0.00005
NM_020366.4(RPGRIP1):c.3582C>T (p.Phe1194=)	rs746471434	0.00002
NM_020366.4(RPGRIP1):c.2367+21A>G	rs2502819324
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020366.4(RPGRIP1):c.2628T>C (p.Asp876=)	rs2502826994
NM_020366.4(RPGRIP1):c.3571C>A (p.Arg1191=)	rs188660364

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.