ClinVar Miner

List of variants in gene RD3 reported as uncertain significance for Leber congenital amaurosis 12

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.-377G>A rs17017574 0.01053
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) rs34049451 0.00854
NM_183059.2(RD3):c.-1034G>A rs146780723 0.00737
NM_183059.2(RD3):c.-495T>G rs147349161 0.00654
NM_183059.2(RD3):c.-1106G>A rs113845279 0.00550
NM_001164688.2(RD3):c.*1553C>T rs533275364 0.00423
NM_001164688.2(RD3):c.*1712G>A rs190357778 0.00300
NM_001164688.2(RD3):c.*2247A>T rs190235544 0.00273
NM_001164688.2(RD3):c.*2464C>T rs557944408 0.00227
NM_001164688.2(RD3):c.*1672C>T rs544513757 0.00192
NM_001164688.2(RD3):c.*1108C>T rs151010298 0.00170
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_001164688.2(RD3):c.-340G>A rs376931725 0.00108
NM_183059.2(RD3):c.-1052C>A rs187461760 0.00094
NM_001164688.2(RD3):c.*1310G>A rs193253076 0.00083
NM_183059.2(RD3):c.-925G>A rs182459299 0.00081
NM_001164688.2(RD3):c.*1983C>T rs143085760 0.00067
NM_001164688.2(RD3):c.519G>A (p.Val173=) rs139419737 0.00062
NM_001164688.2(RD3):c.-341C>T rs532622973 0.00050
NM_001164688.2(RD3):c.325C>T (p.Pro109Ser) rs368257358 0.00044
NM_001164688.2(RD3):c.259A>G (p.Lys87Glu) rs200585050 0.00040
NM_001164688.2(RD3):c.*1277G>A rs184525191 0.00036
NM_001164688.2(RD3):c.*213C>T rs745612746 0.00035
NM_001164688.2(RD3):c.*1342T>G rs780834996 0.00029
NM_001164688.2(RD3):c.*738T>C rs886045897 0.00029
NM_183059.2(RD3):c.-556G>A rs181065744 0.00026
NM_001164688.2(RD3):c.202C>T (p.Arg68Trp) rs144697496 0.00025
NM_183059.2(RD3):c.-640G>A rs190249862 0.00024
NM_001164688.2(RD3):c.*1287T>C rs748989370 0.00019
NM_001164688.2(RD3):c.*592C>A rs866479535 0.00019
NM_001164688.2(RD3):c.-356C>T rs77237846 0.00019
NM_001164688.2(RD3):c.101C>T (p.Thr34Met) rs148242709 0.00019
NM_001164688.2(RD3):c.31G>A (p.Glu11Lys) rs145054188 0.00018
NM_001164688.2(RD3):c.*1652C>T rs184074454 0.00015
NM_001164688.2(RD3):c.*814C>A rs369781019 0.00011
NM_001164688.2(RD3):c.*2311C>T rs766209664 0.00009
NM_001164688.2(RD3):c.404C>T (p.Ala135Val) rs909555536 0.00009
NM_001164688.2(RD3):c.43C>T (p.Arg15Trp) rs376558739 0.00009
NM_001164688.2(RD3):c.*2402A>G rs886045888 0.00006
NM_183059.2(RD3):c.-504G>A rs886045918 0.00006
NM_001164688.2(RD3):c.-188G>A rs551882177 0.00005
NM_001164688.2(RD3):c.-189C>T rs573005358 0.00005
NM_001164688.2(RD3):c.134G>A (p.Arg45Gln) rs146921079 0.00005
NM_001164688.2(RD3):c.*882C>T rs760692968 0.00004
NM_001164688.2(RD3):c.140G>A (p.Arg47His) rs756510440 0.00004
NM_001164688.2(RD3):c.170G>T (p.Gly57Val) rs767481165 0.00004
NM_001164688.2(RD3):c.20T>A (p.Leu7His) rs372790239 0.00004
NM_001164688.2(RD3):c.232C>T (p.Arg78Trp) rs755218137 0.00004
NM_001164688.2(RD3):c.233G>A (p.Arg78Gln) rs199896612 0.00004
NM_001164688.2(RD3):c.297-3C>G rs764677890 0.00004
NM_001164688.2(RD3):c.*2481A>T rs373654186 0.00003
NM_001164688.2(RD3):c.-139C>T rs886045902 0.00003
NM_001164688.2(RD3):c.-25G>A rs886045901 0.00003
NM_001164688.2(RD3):c.150G>A (p.Ala50=) rs751609154 0.00003
NM_001164688.2(RD3):c.160G>T (p.Val54Phe) rs752946135 0.00003
NM_001164688.2(RD3):c.527A>G (p.Asp176Gly) rs775663367 0.00003
NM_001164688.2(RD3):c.583G>T (p.Asp195Tyr) rs779496653 0.00003
NM_001164688.2(RD3):c.*44G>A rs1483915177 0.00002
NM_001164688.2(RD3):c.-355G>A rs886045917 0.00002
NM_001164688.2(RD3):c.102G>A (p.Thr34=) rs199511076 0.00002
NM_001164688.2(RD3):c.23G>A (p.Arg8Gln) rs368631943 0.00002
NM_001164688.2(RD3):c.283C>T (p.Pro95Ser) rs759162527 0.00002
NM_001164688.2(RD3):c.446G>T (p.Ser149Ile) rs371097322 0.00002
NM_001164688.2(RD3):c.587G>C (p.Ter196Ser) rs370045355 0.00002
NM_001164688.2(RD3):c.65C>A (p.Ala22Asp) rs371743426 0.00002
NM_001164688.2(RD3):c.*1555T>C rs886045895 0.00001
NM_001164688.2(RD3):c.*1634G>A rs886045893 0.00001
NM_001164688.2(RD3):c.*2081C>T rs886045892 0.00001
NM_001164688.2(RD3):c.*2098G>A rs886045891 0.00001
NM_001164688.2(RD3):c.*2138T>C rs886045890 0.00001
NM_001164688.2(RD3):c.*2317G>A rs886045889 0.00001
NM_001164688.2(RD3):c.*2330C>T rs1007517182 0.00001
NM_001164688.2(RD3):c.*2451A>C rs567341266 0.00001
NM_001164688.2(RD3):c.*263T>G rs1558178563 0.00001
NM_001164688.2(RD3):c.*330G>C rs1292806853 0.00001
NM_001164688.2(RD3):c.*590T>C rs886045898 0.00001
NM_001164688.2(RD3):c.*591T>A rs913071969 0.00001
NM_001164688.2(RD3):c.169G>A (p.Gly57Ser) rs750239049 0.00001
NM_001164688.2(RD3):c.182G>A (p.Ser61Asn) rs775226280 0.00001
NM_001164688.2(RD3):c.203G>A (p.Arg68Gln) rs777789102 0.00001
NM_001164688.2(RD3):c.227T>C (p.Ile76Thr) rs752858252 0.00001
NM_001164688.2(RD3):c.22C>T (p.Arg8Trp) rs142307843 0.00001
NM_001164688.2(RD3):c.297G>A (p.Arg99=) rs575487939 0.00001
NM_001164688.2(RD3):c.2T>C (p.Met1Thr) rs1046628693 0.00001
NM_001164688.2(RD3):c.368A>T (p.Gln123Leu) rs764736043 0.00001
NM_001164688.2(RD3):c.493G>A (p.Asp165Asn) rs746738197 0.00001
NM_001164688.2(RD3):c.509C>T (p.Ser170Phe) rs776821754 0.00001
NM_001164688.2(RD3):c.511G>A (p.Glu171Lys) rs373687238 0.00001
NM_001164688.2(RD3):c.560C>A (p.Pro187His) rs1268167803 0.00001
NM_001164688.2(RD3):c.89T>A (p.Met30Lys) rs757374757 0.00001
NM_001164688.2(RD3):c.94G>C (p.Glu32Gln) rs368003568 0.00001
NM_183059.2(RD3):c.-1120G>A rs886045920 0.00001
NM_183059.2(RD3):c.-1160T>C rs952170950 0.00001
NM_001164688.2(RD3):c.*1005C>G rs1705179441
NM_001164688.2(RD3):c.*1323G>A rs1705172696
NM_001164688.2(RD3):c.*2007G>A rs1027456684
NM_001164688.2(RD3):c.*527G>C rs886045899
NM_001164688.2(RD3):c.-12+10A>C rs886045900
NM_001164688.2(RD3):c.-138C>A rs368463447
NM_001164688.2(RD3):c.-138C>G rs368463447
NM_001164688.2(RD3):c.-291T>C rs886045906
NM_001164688.2(RD3):c.-296A>C rs989943339
NM_001164688.2(RD3):c.-302A>C rs886045912
NM_001164688.2(RD3):c.-304A>C rs866406243
NM_001164688.2(RD3):c.-329C>T rs886045913
NM_001164688.2(RD3):c.-332A>G rs886045914
NM_001164688.2(RD3):c.111G>A (p.Met37Ile)
NM_001164688.2(RD3):c.113G>A (p.Arg38Gln)
NM_001164688.2(RD3):c.119C>T (p.Ala40Val)
NM_001164688.2(RD3):c.11T>C (p.Ile4Thr)
NM_001164688.2(RD3):c.148G>A (p.Ala50Thr) rs745483958
NM_001164688.2(RD3):c.149C>A (p.Ala50Glu) rs140156866
NM_001164688.2(RD3):c.149C>T (p.Ala50Val)
NM_001164688.2(RD3):c.169G>T (p.Gly57Cys) rs750239049
NM_001164688.2(RD3):c.1A>G (p.Met1Val)
NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) rs2102367767
NM_001164688.2(RD3):c.233G>C (p.Arg78Pro)
NM_001164688.2(RD3):c.256G>A (p.Val86Ile)
NM_001164688.2(RD3):c.284C>T (p.Pro95Leu) rs1157836749
NM_001164688.2(RD3):c.296G>A (p.Arg99Lys)
NM_001164688.2(RD3):c.348G>T (p.Gln116His) rs1044780517
NM_001164688.2(RD3):c.355C>T (p.Arg119Cys) rs756475390
NM_001164688.2(RD3):c.360G>A (p.Ser120=)
NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) rs2102366503
NM_001164688.2(RD3):c.386T>A (p.Met129Lys) rs1401610655
NM_001164688.2(RD3):c.431T>A (p.Leu144Gln)
NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe)
NM_001164688.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_001164688.2(RD3):c.473G>T (p.Arg158Leu) rs748059354
NM_001164688.2(RD3):c.481C>T (p.Pro161Ser)
NM_001164688.2(RD3):c.511G>C (p.Glu171Gln)
NM_001164688.2(RD3):c.53C>T (p.Thr18Ile)
NM_001164688.2(RD3):c.545G>A (p.Arg182Gln) rs747890482
NM_001164688.2(RD3):c.545G>T (p.Arg182Leu) rs747890482
NM_001164688.2(RD3):c.559C>G (p.Pro187Ala) rs1051185578
NM_001164688.2(RD3):c.55A>T (p.Arg19Trp) rs1705256764
NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) rs1374882349
NM_001164688.2(RD3):c.61C>G (p.Pro21Ala) rs151172389
NM_001164688.2(RD3):c.61C>T (p.Pro21Ser) rs151172389
NM_001164688.2(RD3):c.83C>A (p.Thr28Lys)
NM_183059.2(RD3):c.-1118A>T rs748107586
NM_183059.2(RD3):c.-505C>T rs570507460
NM_183059.2(RD3):c.-539G>T rs143497175
NM_183059.2(RD3):c.-572G>A rs139370470
NM_183059.2(RD3):c.-712G>C rs886045919
NM_183059.2(RD3):c.-714G>C rs561881146
NM_183059.2(RD3):c.-771G>T rs1705514729
NM_183059.2(RD3):c.-884C>A rs781387518

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.