ClinVar Miner

List of variants in gene RIPOR2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001286445.3(RIPOR2):c.1816G>A (p.Asp606Asn) rs201962345 0.00045
NM_001286445.3(RIPOR2):c.2719A>G (p.Met907Val) rs559836162 0.00025
NM_001286445.3(RIPOR2):c.992A>G (p.Asn331Ser) rs201984243 0.00023
NM_001286445.3(RIPOR2):c.1164+482A>G rs745360194 0.00020
NM_001286445.3(RIPOR2):c.2981C>T (p.Thr994Ile) rs146500719 0.00019
NM_001286445.3(RIPOR2):c.1456G>A (p.Glu486Lys) rs200262598 0.00014
NM_001286445.3(RIPOR2):c.2721G>A (p.Met907Ile) rs999278063 0.00009
NM_001286445.3(RIPOR2):c.323G>C (p.Arg108Thr) rs201842232 0.00009
NM_001286445.3(RIPOR2):c.1261G>A (p.Ala421Thr) rs764795648 0.00005
NM_001286445.3(RIPOR2):c.2084C>T (p.Ala695Val) rs746238109 0.00003
NM_001286445.3(RIPOR2):c.2320G>A (p.Gly774Arg) rs756114171 0.00003
NM_001286445.3(RIPOR2):c.2623G>A (p.Val875Ile) rs538212854 0.00003
NM_001286445.3(RIPOR2):c.874A>G (p.Ile292Val) rs772453057 0.00003
NM_001286445.3(RIPOR2):c.2173G>A (p.Val725Ile) rs1210578940 0.00002
NM_001286445.3(RIPOR2):c.2394G>C (p.Lys798Asn) rs888518442 0.00002
NM_001286445.3(RIPOR2):c.3094T>C (p.Cys1032Arg) rs756843533 0.00002
NM_001286445.3(RIPOR2):c.1139C>T (p.Pro380Leu) rs758778623 0.00001
NM_001286445.3(RIPOR2):c.1164+349T>G rs1458371438 0.00001
NM_001286445.3(RIPOR2):c.1540A>G (p.Asn514Asp) rs748776102 0.00001
NM_001286445.3(RIPOR2):c.305G>T (p.Arg102Met) rs754206498 0.00001
NM_001286445.3(RIPOR2):c.1100G>A (p.Arg367Lys)
NM_001286445.3(RIPOR2):c.1164+378C>A
NM_001286445.3(RIPOR2):c.1164+418C>T
NM_001286445.3(RIPOR2):c.1164+425G>A
NM_001286445.3(RIPOR2):c.1164+475G>T
NM_001286445.3(RIPOR2):c.1166C>T (p.Ser389Leu)
NM_001286445.3(RIPOR2):c.1370T>A (p.Met457Lys)
NM_001286445.3(RIPOR2):c.1411G>A (p.Glu471Lys)
NM_001286445.3(RIPOR2):c.1744A>G (p.Ser582Gly)
NM_001286445.3(RIPOR2):c.181C>T (p.Arg61Ter)
NM_001286445.3(RIPOR2):c.182G>A (p.Arg61Gln)
NM_001286445.3(RIPOR2):c.1858-1437G>T
NM_001286445.3(RIPOR2):c.1939A>C (p.Asn647His)
NM_001286445.3(RIPOR2):c.1960G>A (p.Glu654Lys)
NM_001286445.3(RIPOR2):c.2000C>T (p.Ala667Val)
NM_001286445.3(RIPOR2):c.201delinsTTGGATGCCCAATCCAAATCCTTTTGGATGCCCAATCCTCACAATTTCTTCTGTTCTTTCCATAGGTGTAACTCCATAGGA (p.Phe67_Ile68insTrpMetProAsnProAsnProPheGlyCysProIleLeuThrIleSerSerValLeuSerIleGlyValThrProTer)
NM_001286445.3(RIPOR2):c.2048C>T (p.Ser683Leu)
NM_001286445.3(RIPOR2):c.2209C>A (p.Gln737Lys)
NM_001286445.3(RIPOR2):c.2239G>A (p.Val747Met)
NM_001286445.3(RIPOR2):c.2327T>C (p.Ile776Thr)
NM_001286445.3(RIPOR2):c.2539C>T (p.Arg847Trp) rs368666946
NM_001286445.3(RIPOR2):c.2699A>T (p.Asp900Val)
NM_001286445.3(RIPOR2):c.2794G>A (p.Glu932Lys)
NM_001286445.3(RIPOR2):c.2854C>T (p.His952Tyr)
NM_001286445.3(RIPOR2):c.2927C>T (p.Ala976Val)
NM_001286445.3(RIPOR2):c.604C>T (p.Arg202Trp)
NM_001286445.3(RIPOR2):c.657G>T (p.Met219Ile)
NM_001286445.3(RIPOR2):c.785G>A (p.Arg262Gln)

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.