ClinVar Miner

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:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
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.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.2367+19C>T rs367769049 0.00025
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
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.3582C>T (p.Phe1194=) rs746471434 0.00002
NM_020366.4(RPGRIP1):c.2367+21A>G
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2367+24C>T
NM_020366.4(RPGRIP1):c.2628T>C (p.Asp876=)
NM_020366.4(RPGRIP1):c.3571C>A (p.Arg1191=)

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.