ClinVar Miner

List of variants in gene RBP3 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002900.3(RBP3):c.2077G>A (p.Val693Met) rs112888313 0.00857
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) rs35686775 0.00618
NM_002900.3(RBP3):c.1809C>T (p.Gly603=) rs34044042 0.00571
NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys) rs35238500 0.00463
NM_002900.3(RBP3):c.*388G>A rs58627053 0.00443
NM_002900.3(RBP3):c.3381G>A (p.Gln1127=) rs113381589 0.00409
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
NM_002900.3(RBP3):c.843C>T (p.Pro281=) rs35186791 0.00203
NM_002900.3(RBP3):c.1933C>T (p.His645Tyr) rs138305522 0.00200
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) rs148591757 0.00177
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) rs148247227 0.00157
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_002900.3(RBP3):c.2619C>T (p.Ala873=) rs146045906 0.00120
NM_002900.3(RBP3):c.120C>T (p.Cys40=) rs373417235 0.00079
NM_002900.3(RBP3):c.927C>T (p.Ala309=) rs75452094 0.00071
NM_002900.3(RBP3):c.126G>A (p.Pro42=) rs146175391 0.00061
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) rs139299230 0.00055
NM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe) rs143507852 0.00050
NM_002900.3(RBP3):c.2856T>C (p.Tyr952=) rs370173809 0.00043
NM_002900.3(RBP3):c.1569C>G (p.His523Gln) rs148093336 0.00030
NM_002900.3(RBP3):c.1179A>G (p.Thr393=) rs148615170 0.00026
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_002900.3(RBP3):c.1083G>C (p.Thr361=) rs146487673 0.00020
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) rs149642039 0.00019
NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser) rs138240045 0.00019
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) rs147796755 0.00015
NM_002900.3(RBP3):c.1207G>A (p.Ala403Thr) rs143857049 0.00014
NM_002900.3(RBP3):c.2899G>A (p.Gly967Ser) rs201500631 0.00014
NM_002900.3(RBP3):c.1806C>T (p.His602=) rs782049247 0.00013
NM_002900.3(RBP3):c.3156C>T (p.Asp1052=) rs756128531 0.00013
NM_002900.3(RBP3):c.579C>T (p.Ile193=) rs140931492 0.00013
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) rs146153708 0.00012
NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) rs368898051 0.00012
NM_002900.3(RBP3):c.*65C>T rs183587343 0.00010
NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys) rs143632019 0.00010
NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) rs142945423 0.00010
NM_002900.3(RBP3):c.2156C>T (p.Ala719Val) rs375567540 0.00009
NM_002900.3(RBP3):c.2184C>T (p.Tyr728=) rs34460089 0.00009
NM_002900.3(RBP3):c.2591G>A (p.Arg864Gln) rs371184896 0.00009
NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys) rs3740296 0.00009
NM_002900.3(RBP3):c.*180T>C rs886047014 0.00008
NM_002900.3(RBP3):c.1384C>T (p.Arg462Cys) rs551138498 0.00008
NM_002900.3(RBP3):c.1647G>A (p.Ala549=) rs146715054 0.00008
NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) rs200168559 0.00008
NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) rs782480179 0.00007
NM_002900.3(RBP3):c.2556C>T (p.Ala852=) rs375422843 0.00006
NM_002900.3(RBP3):c.844G>A (p.Val282Met) rs782095820 0.00006
NM_002900.3(RBP3):c.2125G>T (p.Val709Leu) rs782171257 0.00005
NM_002900.3(RBP3):c.2324C>T (p.Thr775Met) rs201724324 0.00005
NM_002900.3(RBP3):c.2597C>T (p.Thr866Met) rs782152099 0.00005
NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) rs563600593 0.00004
NM_002900.3(RBP3):c.1581G>A (p.Pro527=) rs782233629 0.00004
NM_002900.3(RBP3):c.2270T>G (p.Val757Gly) rs17853945 0.00004
NM_002900.3(RBP3):c.258C>T (p.Arg86=) rs376194840 0.00004
NM_002900.3(RBP3):c.2616G>A (p.Thr872=) rs570062125 0.00004
NM_002900.3(RBP3):c.967C>T (p.Arg323Cys) rs373982809 0.00004
NM_002900.3(RBP3):c.1264C>T (p.Arg422Trp) rs199801954 0.00003
NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu) rs375761633 0.00003
NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr) rs782632795 0.00003
NM_002900.3(RBP3):c.2871G>T (p.Leu957=) rs377374761 0.00003
NM_002900.3(RBP3):c.2949G>C (p.Glu983Asp) rs886047016 0.00003
NM_002900.3(RBP3):c.463G>A (p.Val155Met) rs782157576 0.00003
NM_002900.3(RBP3):c.53G>T (p.Gly18Val) rs864621997 0.00003
NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) rs376854254 0.00003
NM_002900.3(RBP3):c.1007T>C (p.Val336Ala) rs782570418 0.00002
NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser) rs527458754 0.00002
NM_002900.3(RBP3):c.1351_1352insTCGTC (p.Ser451fs) rs781889777 0.00002
NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys) rs782791110 0.00002
NM_002900.3(RBP3):c.2020C>T (p.Arg674Cys) rs782227889 0.00002
NM_002900.3(RBP3):c.2481C>T (p.Pro827=) rs782371726 0.00002
NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys) rs781847641 0.00002
NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys) rs782423972 0.00002
NM_002900.3(RBP3):c.1008C>T (p.Val336=) rs782299182 0.00001
NM_002900.3(RBP3):c.1044C>T (p.Pro348=) rs547601457 0.00001
NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) rs781840247 0.00001
NM_002900.3(RBP3):c.1138T>G (p.Ser380Ala) rs201355398 0.00001
NM_002900.3(RBP3):c.1146T>G (p.Asp382Glu) rs782731785 0.00001
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) rs782245537 0.00001
NM_002900.3(RBP3):c.1163G>A (p.Arg388Gln) rs141006781 0.00001
NM_002900.3(RBP3):c.1265G>A (p.Arg422Gln) rs781823270 0.00001
NM_002900.3(RBP3):c.1294G>C (p.Val432Leu) rs1555211188 0.00001
NM_002900.3(RBP3):c.1323C>T (p.Tyr441=) rs782282118 0.00001
NM_002900.3(RBP3):c.1399C>T (p.Pro467Ser) rs782195686 0.00001
NM_002900.3(RBP3):c.1778T>C (p.Val593Ala) rs782233167 0.00001
NM_002900.3(RBP3):c.1807G>A (p.Gly603Ser) rs202017297 0.00001
NM_002900.3(RBP3):c.2121G>A (p.Glu707=) rs886047017 0.00001
NM_002900.3(RBP3):c.2240G>A (p.Arg747His) rs199953057 0.00001
NM_002900.3(RBP3):c.2488G>A (p.Ala830Thr) rs782226632 0.00001
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr) rs370922435 0.00001
NM_002900.3(RBP3):c.2979C>T (p.Ser993=) rs375342580 0.00001
NM_002900.3(RBP3):c.3452C>T (p.Ala1151Val) rs202047317 0.00001
NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met) rs782099994 0.00001
NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) rs782519239 0.00001
NM_002900.3(RBP3):c.365G>A (p.Arg122His) rs41302693 0.00001
NM_002900.3(RBP3):c.508C>T (p.Arg170Trp) rs782449660 0.00001
NM_002900.3(RBP3):c.722A>T (p.Asp241Val) rs782211857 0.00001
NM_002900.3(RBP3):c.787G>T (p.Ala263Ser) rs77257977 0.00001
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) rs200239015 0.00001
NM_002900.3(RBP3):c.934G>A (p.Ala312Thr) rs1020582345 0.00001
NM_002900.3(RBP3):c.*116A>C rs1837067775
NM_002900.3(RBP3):c.*226C>G rs541270803
NM_002900.3(RBP3):c.*266C>G rs998604639
NM_002900.3(RBP3):c.-83G>A rs1836888927
NM_002900.3(RBP3):c.1036C>T (p.Arg346Cys)
NM_002900.3(RBP3):c.1191T>C (p.Ser397=)
NM_002900.3(RBP3):c.1245G>A (p.Leu415=)
NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser) rs864621999
NM_002900.3(RBP3):c.1354G>T (p.Val452Phe)
NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)
NM_002900.3(RBP3):c.1502C>A (p.Ala501Asp)
NM_002900.3(RBP3):c.1525A>G (p.Thr509Ala)
NM_002900.3(RBP3):c.1588C>A (p.Arg530Ser)
NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys) rs202162675
NM_002900.3(RBP3):c.1589G>A (p.Arg530His)
NM_002900.3(RBP3):c.1620C>T (p.Leu540=)
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_002900.3(RBP3):c.1674G>A (p.Ser558=) rs372137106
NM_002900.3(RBP3):c.1709C>T (p.Ala570Val)
NM_002900.3(RBP3):c.1742T>A (p.Leu581Gln) rs886047021
NM_002900.3(RBP3):c.1754C>A (p.Pro585His) rs781830183
NM_002900.3(RBP3):c.1776C>G (p.Thr592=) rs139452142
NM_002900.3(RBP3):c.1776C>T (p.Thr592=) rs139452142
NM_002900.3(RBP3):c.1777G>A (p.Val593Met)
NM_002900.3(RBP3):c.1813G>C (p.Ala605Pro) rs886047020
NM_002900.3(RBP3):c.1844C>T (p.Ala615Val) rs368920246
NM_002900.3(RBP3):c.1857C>T (p.Ala619=) rs782455598
NM_002900.3(RBP3):c.1902A>C (p.Gln634His)
NM_002900.3(RBP3):c.1919T>C (p.Val640Ala) rs886047019
NM_002900.3(RBP3):c.1969G>A (p.Val657Met) rs532389581
NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp) rs886047018
NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile) rs864622000
NM_002900.3(RBP3):c.2180C>T (p.Thr727Ile) rs1371511644
NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) rs143110000
NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys) rs782664364
NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp) rs782431515
NM_002900.3(RBP3):c.2340C>T (p.Ile780=)
NM_002900.3(RBP3):c.2341G>A (p.Asp781Asn)
NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys) rs864622001
NM_002900.3(RBP3):c.2372C>T (p.Thr791Met)
NM_002900.3(RBP3):c.240C>A (p.Ser80Arg)
NM_002900.3(RBP3):c.240C>T (p.Ser80=)
NM_002900.3(RBP3):c.2417G>A (p.Arg806His)
NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser) rs142945423
NM_002900.3(RBP3):c.2557G>A (p.Glu853Lys)
NM_002900.3(RBP3):c.2570A>C (p.His857Pro) rs1836963759
NM_002900.3(RBP3):c.2647C>G (p.Gln883Glu)
NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg) rs373766942
NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg) rs548622709
NM_002900.3(RBP3):c.2884G>A (p.Ala962Thr) rs1426209551
NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile) rs200706310
NM_002900.3(RBP3):c.307C>T (p.Pro103Ser)
NM_002900.3(RBP3):c.3085A>C (p.Ile1029Leu)
NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile) rs864622002
NM_002900.3(RBP3):c.3245+1del rs868975969
NM_002900.3(RBP3):c.3307G>A (p.Gly1103Ser)
NM_002900.3(RBP3):c.3363A>G (p.Glu1121=) rs201472530
NM_002900.3(RBP3):c.3382G>A (p.Val1128Ile) rs1588865742
NM_002900.3(RBP3):c.359G>T (p.Gly120Val)
NM_002900.3(RBP3):c.3675G>A (p.Arg1225=)
NM_002900.3(RBP3):c.3709G>A (p.Val1237Met)
NM_002900.3(RBP3):c.490G>A (p.Ala164Thr)
NM_002900.3(RBP3):c.586G>A (p.Val196Met) rs782398712
NM_002900.3(RBP3):c.590A>G (p.Asp197Gly) rs1555210967
NM_002900.3(RBP3):c.596T>C (p.Ile199Thr)
NM_002900.3(RBP3):c.632G>A (p.Trp211Ter) rs1480910058
NM_002900.3(RBP3):c.971G>T (p.Ser324Ile) rs1836914786

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.