ClinVar Miner

List of variants reported as uncertain significance for Pigmentary retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.*1565G>A rs41273818 0.00908
NM_000322.5(PRPH2):c.*509G>A rs56194662 0.00277
NM_002905.5(RDH5):c.97A>G (p.Ile33Val) rs62638195 0.00261
NM_000326.5(RLBP1):c.-199T>C rs117263224 0.00239
NM_000322.5(PRPH2):c.-60C>T rs144011444 0.00211
NM_000322.5(PRPH2):c.*1687C>T rs139177846 0.00186
NM_000326.5(RLBP1):c.924C>G (p.Pro308=) rs144615495 0.00153
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_002905.5(RDH5):c.525C>T (p.Tyr175=) rs139647623 0.00090
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640 0.00084
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383 0.00082
NM_000322.5(PRPH2):c.*351G>A rs551934443 0.00075
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00073
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000322.5(PRPH2):c.*1408G>C rs573667549 0.00050
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.*20C>T rs180775924 0.00042
NM_000322.5(PRPH2):c.*592A>T rs573416213 0.00042
NM_000326.5(RLBP1):c.796-6C>T rs201866933 0.00022
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000322.5(PRPH2):c.*1299C>T rs535380944 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln) rs200488706 0.00019
NM_000322.5(PRPH2):c.-166G>A rs886061407 0.00017
NM_000322.5(PRPH2):c.252C>T (p.Asp84=) rs139936445 0.00017
NM_000326.5(RLBP1):c.228G>A (p.Ser76=) rs202116993 0.00014
NM_000326.5(RLBP1):c.*403T>C rs766420046 0.00012
NM_000326.5(RLBP1):c.-233G>A rs886051504 0.00011
NM_002905.5(RDH5):c.311-12A>G rs369461881 0.00011
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_000322.5(PRPH2):c.*350C>T rs769850707 0.00009
NM_000322.5(PRPH2):c.*743G>A rs941727712 0.00009
NM_000326.5(RLBP1):c.*256G>A rs1000064967 0.00009
NM_000322.5(PRPH2):c.*626A>G rs1383185417 0.00008
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) rs200143313 0.00006
NM_002905.5(RDH5):c.*148G>T rs886049677 0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_002905.5(RDH5):c.928C>G (p.Leu310Val) rs761500612 0.00005
NM_000322.5(PRPH2):c.*417A>T rs531859483 0.00004
NM_000322.5(PRPH2):c.*917G>A rs185036139 0.00004
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_002905.5(RDH5):c.-152G>A rs886049672 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000326.5(RLBP1):c.-169T>A rs903050784 0.00002
NM_000326.5(RLBP1):c.-234C>T rs779779512 0.00002
NM_000326.5(RLBP1):c.-72C>T rs886051501 0.00002
NM_000326.5(RLBP1):c.525+14C>T rs1173705310 0.00002
NM_002905.5(RDH5):c.537A>G (p.Lys179=) rs769568052 0.00002
NM_002905.5(RDH5):c.683G>A (p.Arg228Gln) rs571658392 0.00002
NM_000322.4(PRPH2):c.-282G>A rs886061408 0.00001
NM_000322.5(PRPH2):c.*1000C>G rs1367940496 0.00001
NM_000322.5(PRPH2):c.*1007C>A rs886061400 0.00001
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) rs1351857575 0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.852C>A (p.Arg284=) rs745807357 0.00001
NM_000326.5(RLBP1):c.*212G>A rs1281765664 0.00001
NM_000326.5(RLBP1):c.-104T>G rs886051502 0.00001
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) rs762121817 0.00001
NM_000326.5(RLBP1):c.626T>C (p.Met209Thr) rs775355367 0.00001
NM_000326.5(RLBP1):c.684+6G>C rs755347677 0.00001
NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln) rs150318794 0.00001
NM_000539.3(RHO):c.892G>A (p.Ala298Thr) rs781237162 0.00001
NM_002905.5(RDH5):c.-123G>A rs886049673 0.00001
NM_002905.5(RDH5):c.489C>T (p.Ser163=) rs754237316 0.00001
NM_002905.5(RDH5):c.776C>T (p.Pro259Leu) rs748586229 0.00001
NM_002905.5(RDH5):c.792G>A (p.Val264=) rs746999951 0.00001
NM_002905.5(RDH5):c.900C>G (p.Ser300Arg) rs769652740 0.00001
NM_000322.5(PRPH2):c.*152G>C rs113384495
NM_000322.5(PRPH2):c.*1533A>G rs1799950043
NM_000322.5(PRPH2):c.*154C>T rs886061403
NM_000322.5(PRPH2):c.*1580C>G rs886061399
NM_000322.5(PRPH2):c.*213A>C rs886061402
NM_000322.5(PRPH2):c.*468_*469del rs886061401
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.*797G>A rs188694434
NM_000322.5(PRPH2):c.-116C>G rs886061406
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) rs1799983757
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) rs769939935
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404
NM_000326.5(RLBP1):c.*135G>A rs2051524190
NM_000326.5(RLBP1):c.*301T>A rs2051522830
NM_000326.5(RLBP1):c.*334T>C rs886051500
NM_000326.5(RLBP1):c.-182G>C rs886051503
NM_000326.5(RLBP1):c.-223-1G>A rs1032783403
NM_000326.5(RLBP1):c.228G>C (p.Ser76=) rs202116993
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) rs143121722
NM_000326.5(RLBP1):c.433C>A (p.Pro145Thr)
NM_000326.5(RLBP1):c.526-4C>T rs1200459832
NM_000326.5(RLBP1):c.683A>G (p.Gln228Arg)
NM_000326.5(RLBP1):c.78A>T (p.Thr26=) rs780567351
NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr) rs2051527243
NM_000326.5(RLBP1):c.924C>A (p.Pro308=) rs144615495
NM_002905.5(RDH5):c.*105A>G rs972224107
NM_002905.5(RDH5):c.*12C>A rs886049675
NM_002905.5(RDH5):c.417T>A (p.Gly139=) rs886049674
NM_002905.5(RDH5):c.608T>A (p.Val203Glu)
NM_002905.5(RDH5):c.793A>G (p.Ser265Gly) rs771063598
NM_002905.5(RDH5):c.952dup (p.Tyr318fs)

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.