ClinVar Miner

List of variants in gene RBP3 reported as uncertain significance for Retinitis pigmentosa

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Total variants: 87
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HGVS dbSNP gnomAD frequency
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.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.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.*65C>T rs183587343 0.00010
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.2125G>T (p.Val709Leu) rs782171257 0.00005
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.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.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.2481C>T (p.Pro827=) rs782371726 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.1146T>G (p.Asp382Glu) rs782731785 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.2121G>A (p.Glu707=) rs886047017 0.00001
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr) rs370922435 0.00001
NM_002900.3(RBP3):c.787G>T (p.Ala263Ser) rs77257977 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.1588C>T (p.Arg530Cys) rs202162675
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.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.1813G>C (p.Ala605Pro) rs886047020
NM_002900.3(RBP3):c.1919T>C (p.Val640Ala) rs886047019
NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp) rs886047018
NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) rs143110000
NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp) rs782431515
NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser) rs142945423
NM_002900.3(RBP3):c.3245+1del rs868975969
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.590A>G (p.Asp197Gly) rs1555210967
NM_002900.3(RBP3):c.971G>T (p.Ser324Ile) rs1836914786

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