ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000539.3(RHO):c.730C>T (p.Gln244Ter) rs1273934052 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1034T>C (p.Val345Ala) rs1578281706
NM_000539.3(RHO):c.116T>G (p.Met39Arg) rs2084756915
NM_000539.3(RHO):c.165C>A (p.Asn55Lys) rs1312862210
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.317G>T (p.Gly106Val) rs1578278417
NM_000539.3(RHO):c.328T>G (p.Cys110Gly) rs1578278438
NM_000539.3(RHO):c.329G>T (p.Cys110Phe)
NM_000539.3(RHO):c.353_361+3del rs2084759300
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.400G>A (p.Glu134Lys)
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) rs200248198
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.489G>A (p.Met163Ile)
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.50C>A (p.Thr17Lys) rs104893769
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.527C>T (p.Ser176Phe) rs2084776365
NM_000539.3(RHO):c.532T>C (p.Tyr178His) rs2084785435
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.539C>T (p.Pro180Leu) rs2084785483
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu) rs2084785588
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000539.3(RHO):c.559T>C (p.Cys187Arg) rs2084785760
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) rs1578280588
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn) rs1578280614
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.643C>G (p.Pro215Ala) rs2108750367
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.673C>T (p.Gln225Ter) rs752076372
NM_000539.3(RHO):c.67C>A (p.Pro23Thr)
NM_000539.3(RHO):c.67C>T (p.Pro23Ser) rs104893797
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.851G>A (p.Gly284Asp) rs2084791045
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.929del (p.Asn310fs) rs2084793386
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) rs2084800683
NM_000539.3(RHO):c.977del (p.Asn326fs) rs2084800900

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.