ClinVar Miner

List of variants reported as uncertain significance for cone-rod dystrophy 13

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 449
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.1796C>T (p.Pro599Leu) rs368192802 0.00048
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.913G>A (p.Glu305Lys) rs752956324 0.00023
NM_020366.4(RPGRIP1):c.218+6T>C rs370643056 0.00021
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_020366.4(RPGRIP1):c.907G>A (p.Ala303Thr) rs200168103 0.00020
NM_020366.4(RPGRIP1):c.1991A>G (p.His664Arg) rs767180524 0.00018
NM_020366.4(RPGRIP1):c.3644C>T (p.Pro1215Leu) rs1295657393 0.00018
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.2942G>A (p.Arg981Gln) rs376213645 0.00015
NM_020366.4(RPGRIP1):c.1761T>C (p.Ser587=) rs559041866 0.00014
NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle) rs774522001 0.00014
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00014
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu) rs543867152 0.00011
NM_020366.4(RPGRIP1):c.2710+11G>A rs368181053 0.00011
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys) rs199589566 0.00009
NM_020366.4(RPGRIP1):c.1306+3A>G rs374260998 0.00008
NM_020366.4(RPGRIP1):c.1652A>G (p.Asn551Ser) rs373415938 0.00008
NM_020366.4(RPGRIP1):c.1772A>G (p.Lys591Arg) rs745899255 0.00008
NM_020366.4(RPGRIP1):c.2449G>A (p.Gly817Arg) rs764884763 0.00008
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_020366.4(RPGRIP1):c.2749G>A (p.Gly917Arg) rs771761377 0.00008
NM_020366.4(RPGRIP1):c.2600G>A (p.Arg867Gln) rs375012807 0.00007
NM_020366.4(RPGRIP1):c.2669G>A (p.Arg890Gln) rs374913550 0.00007
NM_020366.4(RPGRIP1):c.*76A>G rs191842624 0.00006
NM_020366.4(RPGRIP1):c.2297A>G (p.Asn766Ser) rs183607403 0.00006
NM_020366.4(RPGRIP1):c.3022G>C (p.Gly1008Arg) rs377551155 0.00006
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074 0.00006
NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856 0.00006
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg) rs372226099 0.00006
NM_020366.4(RPGRIP1):c.3512T>C (p.Ile1171Thr) rs202036914 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_020366.4(RPGRIP1):c.1103A>G (p.Glu368Gly) rs774569329 0.00005
NM_020366.4(RPGRIP1):c.1588C>T (p.Arg530Cys) rs373592510 0.00005
NM_020366.4(RPGRIP1):c.2203G>T (p.Ala735Ser) rs769776142 0.00005
NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His) rs28937883 0.00005
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_020366.4(RPGRIP1):c.2794C>G (p.Pro932Ala) rs773491339 0.00005
NM_020366.4(RPGRIP1):c.328C>T (p.Arg110Trp) rs765387527 0.00005
NM_020366.4(RPGRIP1):c.353G>A (p.Arg118His) rs369530487 0.00005
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.2083C>A (p.Gln695Lys) rs377020451 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.295G>C (p.Glu99Gln) rs1436942223 0.00004
NM_020366.4(RPGRIP1):c.3037G>A (p.Val1013Ile) rs1289388105 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020366.4(RPGRIP1):c.3832A>G (p.Lys1278Glu) rs768759217 0.00004
NM_020366.4(RPGRIP1):c.432A>G (p.Gln144=) rs751684215 0.00004
NM_020366.4(RPGRIP1):c.437G>A (p.Gly146Glu) rs755600406 0.00004
NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=) rs201186199 0.00004
NM_020366.4(RPGRIP1):c.*44T>C rs370767680 0.00003
NM_020366.4(RPGRIP1):c.1012A>G (p.Lys338Glu) rs766519169 0.00003
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.1943C>A (p.Thr648Asn) rs780101671 0.00003
NM_020366.4(RPGRIP1):c.2303G>A (p.Arg768Gln) rs770870865 0.00003
NM_020366.4(RPGRIP1):c.3170A>T (p.His1057Leu) rs201521970 0.00003
NM_020366.4(RPGRIP1):c.427G>A (p.Val143Ile) rs766604917 0.00003
NM_020366.4(RPGRIP1):c.686G>T (p.Ser229Ile) rs768832924 0.00003
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val) rs187598648 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1173C>G (p.Ser391Arg) rs373962100 0.00002
NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=) rs749098397 0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020366.4(RPGRIP1):c.163G>A (p.Glu55Lys) rs530008238 0.00002
NM_020366.4(RPGRIP1):c.1642G>A (p.Asp548Asn) rs1223339694 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_020366.4(RPGRIP1):c.2479C>T (p.Arg827Cys) rs985883884 0.00002
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252 0.00002
NM_020366.4(RPGRIP1):c.2632G>A (p.Glu878Lys) rs1019416252 0.00002
NM_020366.4(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399 0.00002
NM_020366.4(RPGRIP1):c.2932G>A (p.Gly978Ser) rs754582695 0.00002
NM_020366.4(RPGRIP1):c.3238+4T>C rs748207531 0.00002
NM_020366.4(RPGRIP1):c.3289G>A (p.Asp1097Asn) rs779356445 0.00002
NM_020366.4(RPGRIP1):c.3428A>G (p.Tyr1143Cys) rs765299022 0.00002
NM_020366.4(RPGRIP1):c.3760G>A (p.Glu1254Lys) rs370728861 0.00002
NM_020366.4(RPGRIP1):c.3779T>C (p.Ile1260Thr) rs752222755 0.00002
NM_020366.4(RPGRIP1):c.3821A>G (p.His1274Arg) rs758718790 0.00002
NM_020366.4(RPGRIP1):c.3859T>C (p.Ter1287Arg) rs1029178575 0.00002
NM_020366.4(RPGRIP1):c.683C>T (p.Ala228Val) rs756504836 0.00002
NM_020366.4(RPGRIP1):c.912C>T (p.Tyr304=) rs568372341 0.00002
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533 0.00002
NM_020366.4(RPGRIP1):c.1018G>T (p.Ala340Ser) rs1881555303 0.00001
NM_020366.4(RPGRIP1):c.1078-4T>G rs548990299 0.00001
NM_020366.4(RPGRIP1):c.1135G>A (p.Asp379Asn) rs758038121 0.00001
NM_020366.4(RPGRIP1):c.1238T>G (p.Leu413Arg) rs1486475994 0.00001
NM_020366.4(RPGRIP1):c.128G>A (p.Arg43Gln) rs762187880 0.00001
NM_020366.4(RPGRIP1):c.1326G>T (p.Lys442Asn) rs375450848 0.00001
NM_020366.4(RPGRIP1):c.1340A>G (p.Asn447Ser) rs1342579243 0.00001
NM_020366.4(RPGRIP1):c.1439C>G (p.Ala480Gly) rs1882241075 0.00001
NM_020366.4(RPGRIP1):c.1446G>C (p.Leu482Phe) rs200541068 0.00001
NM_020366.4(RPGRIP1):c.1475A>G (p.Glu492Gly) rs1161752701 0.00001
NM_020366.4(RPGRIP1):c.1506C>A (p.Ser502=) rs777877901 0.00001
NM_020366.4(RPGRIP1):c.1519G>A (p.Glu507Lys) rs1882436936 0.00001
NM_020366.4(RPGRIP1):c.1544C>A (p.Thr515Asn) rs762856248 0.00001
NM_020366.4(RPGRIP1):c.1628T>C (p.Met543Thr) rs1007825048 0.00001
NM_020366.4(RPGRIP1):c.1634C>T (p.Thr545Ile) rs778389059 0.00001
NM_020366.4(RPGRIP1):c.1688G>A (p.Arg563Gln) rs145055116 0.00001
NM_020366.4(RPGRIP1):c.1726G>A (p.Glu576Lys) rs1448903303 0.00001
NM_020366.4(RPGRIP1):c.1856C>T (p.Ser619Phe) rs779121574 0.00001
NM_020366.4(RPGRIP1):c.1898A>G (p.His633Arg) rs774019346 0.00001
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.1949C>T (p.Pro650Leu) rs769167245 0.00001
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln) rs768190736 0.00001
NM_020366.4(RPGRIP1):c.2212A>G (p.Ile738Val) rs774600464 0.00001
NM_020366.4(RPGRIP1):c.2215+6T>C rs767555070 0.00001
NM_020366.4(RPGRIP1):c.2285T>C (p.Leu762Pro) rs199593721 0.00001
NM_020366.4(RPGRIP1):c.2294G>A (p.Cys765Tyr) rs1413996964 0.00001
NM_020366.4(RPGRIP1):c.2331C>T (p.Thr777=) rs760801598 0.00001
NM_020366.4(RPGRIP1):c.2335G>C (p.Val779Leu) rs1050643789 0.00001
NM_020366.4(RPGRIP1):c.2336T>C (p.Val779Ala) rs1195674447 0.00001
NM_020366.4(RPGRIP1):c.2347C>T (p.Arg783Trp) rs765878033 0.00001
NM_020366.4(RPGRIP1):c.2361A>T (p.Glu787Asp) rs1427873310 0.00001
NM_020366.4(RPGRIP1):c.2389C>T (p.Pro797Ser) rs750432423 0.00001
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu) rs372647080 0.00001
NM_020366.4(RPGRIP1):c.2527A>G (p.Asn843Asp) rs762420632 0.00001
NM_020366.4(RPGRIP1):c.2557T>G (p.Phe853Val) rs755901634 0.00001
NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val) rs747355604 0.00001
NM_020366.4(RPGRIP1):c.2620G>A (p.Val874Ile) rs774012865 0.00001
NM_020366.4(RPGRIP1):c.262C>T (p.Leu88=) rs769162918 0.00001
NM_020366.4(RPGRIP1):c.2693A>G (p.Lys898Arg) rs1330207465 0.00001
NM_020366.4(RPGRIP1):c.2864C>T (p.Ser955Phe) rs1437116017 0.00001
NM_020366.4(RPGRIP1):c.2875A>G (p.Lys959Glu) rs758124463 0.00001
NM_020366.4(RPGRIP1):c.2895+3A>G rs769634650 0.00001
NM_020366.4(RPGRIP1):c.2902A>G (p.Met968Val) rs552951112 0.00001
NM_020366.4(RPGRIP1):c.2916G>T (p.Glu972Asp) rs1233085262 0.00001
NM_020366.4(RPGRIP1):c.2964T>A (p.His988Gln) rs1883351019 0.00001
NM_020366.4(RPGRIP1):c.2987A>G (p.Glu996Gly) rs1254110768 0.00001
NM_020366.4(RPGRIP1):c.3057G>A (p.Met1019Ile) rs374298935 0.00001
NM_020366.4(RPGRIP1):c.3124T>A (p.Phe1042Ile) rs988867957 0.00001
NM_020366.4(RPGRIP1):c.3137A>T (p.Asn1046Ile) rs1883600054 0.00001
NM_020366.4(RPGRIP1):c.3223C>G (p.Leu1075Val) rs550094754 0.00001
NM_020366.4(RPGRIP1):c.3227A>G (p.His1076Arg) rs1396404319 0.00001
NM_020366.4(RPGRIP1):c.3259G>A (p.Gly1087Ser) rs756204198 0.00001
NM_020366.4(RPGRIP1):c.3364A>G (p.Ile1122Val) rs1363679912 0.00001
NM_020366.4(RPGRIP1):c.344T>G (p.Met115Arg) rs752159774 0.00001
NM_020366.4(RPGRIP1):c.3450C>G (p.Asp1150Glu) rs527354795 0.00001
NM_020366.4(RPGRIP1):c.3503G>T (p.Gly1168Val) rs763866704 0.00001
NM_020366.4(RPGRIP1):c.356C>T (p.Pro119Leu) rs770129842 0.00001
NM_020366.4(RPGRIP1):c.3587T>A (p.Met1196Lys) rs769554584 0.00001
NM_020366.4(RPGRIP1):c.3651T>G (p.Asp1217Glu) rs1316957086 0.00001
NM_020366.4(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889 0.00001
NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile) rs759191514 0.00001
NM_020366.4(RPGRIP1):c.3791A>G (p.Lys1264Arg) rs753788745 0.00001
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu) rs547876047 0.00001
NM_020366.4(RPGRIP1):c.416C>T (p.Ala139Val) rs1169371081 0.00001
NM_020366.4(RPGRIP1):c.493C>G (p.Pro165Ala) rs199840691 0.00001
NM_020366.4(RPGRIP1):c.521C>T (p.Pro174Leu) rs780733881 0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=) rs574462207 0.00001
NM_020366.4(RPGRIP1):c.61C>T (p.Pro21Ser) rs1032222606 0.00001
NM_020366.4(RPGRIP1):c.667A>G (p.Ser223Gly) rs1285531904 0.00001
NM_020366.4(RPGRIP1):c.680T>C (p.Met227Thr) rs371994477 0.00001
NM_020366.4(RPGRIP1):c.728A>C (p.Lys243Thr) rs766603726 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020366.4(RPGRIP1):c.80C>T (p.Ser27Leu) rs569126479 0.00001
NM_020366.4(RPGRIP1):c.860A>G (p.Asn287Ser) rs937927408 0.00001
NM_020366.4(RPGRIP1):c.926A>G (p.Gln309Arg) rs757291015 0.00001
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val) rs1325466987 0.00001
NM_020366.4(RPGRIP1):c.957T>G (p.His319Gln) rs778477037 0.00001
NM_020366.4(RPGRIP1):c.965T>C (p.Leu322Pro) rs1214509629 0.00001
NC_000014.8:g.(?_21671278)_(22005055_?)dup
NC_000014.8:g.(?_21795762)_(21798566_?)del
NC_000014.8:g.(?_21796563)_(21796806_?)del
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NM_020366.4(RPGRIP1):c.*81A>G rs182458550
NM_020366.4(RPGRIP1):c.1011C>G (p.Ser337Arg) rs2139175426
NM_020366.4(RPGRIP1):c.1013A>G (p.Lys338Arg)
NM_020366.4(RPGRIP1):c.1077+13A>G rs886050398
NM_020366.4(RPGRIP1):c.1077+3A>G
NM_020366.4(RPGRIP1):c.107C>A (p.Pro36Gln) rs189509077
NM_020366.4(RPGRIP1):c.1084G>A (p.Glu362Lys)
NM_020366.4(RPGRIP1):c.10C>A (p.Leu4Met) rs1462796890
NM_020366.4(RPGRIP1):c.1118T>C (p.Leu373Ser)
NM_020366.4(RPGRIP1):c.1165A>T (p.Ser389Cys)
NM_020366.4(RPGRIP1):c.1197C>A (p.Asn399Lys)
NM_020366.4(RPGRIP1):c.1208C>T (p.Ala403Val) rs779216995
NM_020366.4(RPGRIP1):c.1226A>G (p.Gln409Arg)
NM_020366.4(RPGRIP1):c.1268A>G (p.Asp423Gly)
NM_020366.4(RPGRIP1):c.127C>G (p.Arg43Gly) rs751975588
NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp) rs751975588
NM_020366.4(RPGRIP1):c.1285C>G (p.Leu429Val) rs2139188464
NM_020366.4(RPGRIP1):c.1286T>G (p.Leu429Arg) rs1052124836
NM_020366.4(RPGRIP1):c.1320T>G (p.Asp440Glu) rs1882224897
NM_020366.4(RPGRIP1):c.1352A>C (p.Lys451Thr) rs1882228306
NM_020366.4(RPGRIP1):c.1378C>A (p.Gln460Lys) rs1385302435
NM_020366.4(RPGRIP1):c.137T>C (p.Leu46Ser)
NM_020366.4(RPGRIP1):c.138GGA[1] (p.Glu47del)
NM_020366.4(RPGRIP1):c.140A>G (p.Glu47Gly) rs2139144675
NM_020366.4(RPGRIP1):c.1418C>G (p.Ser473Cys) rs1882237224
NM_020366.4(RPGRIP1):c.1430C>A (p.Thr477Asn) rs2139200427
NM_020366.4(RPGRIP1):c.1447C>A (p.Gln483Lys) rs368781265
NM_020366.4(RPGRIP1):c.1451A>G (p.Glu484Gly) rs2139200567
NM_020366.4(RPGRIP1):c.1456A>G (p.Thr486Ala)
NM_020366.4(RPGRIP1):c.1457C>T (p.Thr486Ile) rs1882245032
NM_020366.4(RPGRIP1):c.1464C>G (p.Ile488Met)
NM_020366.4(RPGRIP1):c.1472G>C (p.Ser491Thr)
NM_020366.4(RPGRIP1):c.1506C>T (p.Ser502=) rs777877901
NM_020366.4(RPGRIP1):c.1537G>A (p.Ala513Thr) rs763392584
NM_020366.4(RPGRIP1):c.1537G>T (p.Ala513Ser) rs763392584
NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln) rs374171080
NM_020366.4(RPGRIP1):c.1563G>C (p.Lys521Asn)
NM_020366.4(RPGRIP1):c.1573A>G (p.Met525Val)
NM_020366.4(RPGRIP1):c.1592A>G (p.Lys531Arg) rs2139208888
NM_020366.4(RPGRIP1):c.1600G>C (p.Val534Leu)
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.1612G>A (p.Glu538Lys)
NM_020366.4(RPGRIP1):c.1615_1616delinsAG (p.Glu539Arg) rs2139211228
NM_020366.4(RPGRIP1):c.1631T>A (p.Met544Lys) rs748892211
NM_020366.4(RPGRIP1):c.1711C>G (p.Arg571Gly)
NM_020366.4(RPGRIP1):c.172A>G (p.Met58Val)
NM_020366.4(RPGRIP1):c.173T>C (p.Met58Thr) rs1413728875
NM_020366.4(RPGRIP1):c.1741A>G (p.Ser581Gly)
NM_020366.4(RPGRIP1):c.1757C>G (p.Thr586Arg) rs1387707646
NM_020366.4(RPGRIP1):c.1802C>G (p.Ser601Trp) rs3748360
NM_020366.4(RPGRIP1):c.1802C>T (p.Ser601Leu) rs3748360
NM_020366.4(RPGRIP1):c.1802_1804del (p.Ser601del) rs781272475
NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)
NM_020366.4(RPGRIP1):c.1820T>A (p.Leu607Gln) rs576270075
NM_020366.4(RPGRIP1):c.182A>G (p.Lys61Arg) rs1192734148
NM_020366.4(RPGRIP1):c.184G>A (p.Glu62Lys) rs976713441
NM_020366.4(RPGRIP1):c.1870G>C (p.Gly624Arg) rs2139227241
NM_020366.4(RPGRIP1):c.1875G>T (p.Glu625Asp)
NM_020366.4(RPGRIP1):c.1876A>T (p.Asn626Tyr) rs1882869988
NM_020366.4(RPGRIP1):c.1877A>G (p.Asn626Ser) rs1247485541
NM_020366.4(RPGRIP1):c.1901A>G (p.Gln634Arg) rs1882874181
NM_020366.4(RPGRIP1):c.1903G>A (p.Ala635Thr)
NM_020366.4(RPGRIP1):c.1904C>A (p.Ala635Asp)
NM_020366.4(RPGRIP1):c.1919C>T (p.Ala640Val)
NM_020366.4(RPGRIP1):c.191C>T (p.Ser64Phe) rs1880692860
NM_020366.4(RPGRIP1):c.1945C>A (p.Gln649Lys) rs747575530
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg) rs769167245
NM_020366.4(RPGRIP1):c.1954A>G (p.Thr652Ala)
NM_020366.4(RPGRIP1):c.1970C>T (p.Ser657Phe)
NM_020366.4(RPGRIP1):c.1976A>C (p.Tyr659Ser) rs1278572461
NM_020366.4(RPGRIP1):c.2036C>T (p.Thr679Ile) rs2139228509
NM_020366.4(RPGRIP1):c.203A>G (p.Gln68Arg) rs1880693286
NM_020366.4(RPGRIP1):c.2047G>A (p.Val683Met)
NM_020366.4(RPGRIP1):c.2048T>C (p.Val683Ala)
NM_020366.4(RPGRIP1):c.2054A>G (p.Glu685Gly)
NM_020366.4(RPGRIP1):c.2059G>C (p.Asp687His) rs780193224
NM_020366.4(RPGRIP1):c.2084A>G (p.Gln695Arg)
NM_020366.4(RPGRIP1):c.2087A>C (p.Glu696Ala)
NM_020366.4(RPGRIP1):c.2098C>G (p.Arg700Gly)
NM_020366.4(RPGRIP1):c.2098C>T (p.Arg700Trp) rs775239691
NM_020366.4(RPGRIP1):c.2159G>A (p.Cys720Tyr) rs1882916452
NM_020366.4(RPGRIP1):c.2213T>C (p.Ile738Thr)
NM_020366.4(RPGRIP1):c.2216-15C>G
NM_020366.4(RPGRIP1):c.2224G>A (p.Gly742Arg)
NM_020366.4(RPGRIP1):c.2263C>T (p.Arg755Cys)
NM_020366.4(RPGRIP1):c.2264G>A (p.Arg755His)
NM_020366.4(RPGRIP1):c.2300A>C (p.Lys767Thr) rs1594214205
NM_020366.4(RPGRIP1):c.2308A>C (p.Lys770Gln) rs745694912
NM_020366.4(RPGRIP1):c.2317G>T (p.Val773Phe)
NM_020366.4(RPGRIP1):c.2330C>G (p.Thr777Ser) rs1483742101
NM_020366.4(RPGRIP1):c.2332G>A (p.Asp778Asn)
NM_020366.4(RPGRIP1):c.2348G>A (p.Arg783Gln)
NM_020366.4(RPGRIP1):c.2362G>A (p.Glu788Lys) rs2139232422
NM_020366.4(RPGRIP1):c.2367G>A (p.Glu789=)
NM_020366.4(RPGRIP1):c.2388A>T (p.Glu796Asp)
NM_020366.4(RPGRIP1):c.238C>G (p.Arg80Gly)
NM_020366.4(RPGRIP1):c.2392C>G (p.Gln798Glu) rs1883030065
NM_020366.4(RPGRIP1):c.2398G>C (p.Glu800Gln)
NM_020366.4(RPGRIP1):c.2410G>A (p.Glu804Lys)
NM_020366.4(RPGRIP1):c.2417C>G (p.Thr806Ser)
NM_020366.4(RPGRIP1):c.2425T>C (p.Cys809Arg)
NM_020366.4(RPGRIP1):c.2434C>T (p.Arg812Trp)
NM_020366.4(RPGRIP1):c.2441G>A (p.Arg814Gln)
NM_020366.4(RPGRIP1):c.2446C>A (p.Leu816Met) rs761438226
NM_020366.4(RPGRIP1):c.245C>T (p.Thr82Ile)
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2504A>G (p.Asp835Gly) rs749361825
NM_020366.4(RPGRIP1):c.2507C>A (p.Thr836Asn) rs771018578
NM_020366.4(RPGRIP1):c.2515A>G (p.Ile839Val) rs1231166099
NM_020366.4(RPGRIP1):c.2551G>A (p.Ala851Thr)
NM_020366.4(RPGRIP1):c.2573C>T (p.Thr858Ile)
NM_020366.4(RPGRIP1):c.2591A>T (p.Tyr864Phe)
NM_020366.4(RPGRIP1):c.2594T>C (p.Leu865Pro) rs1883066106
NM_020366.4(RPGRIP1):c.2611T>C (p.Ser871Pro)
NM_020366.4(RPGRIP1):c.2617C>G (p.His873Asp)
NM_020366.4(RPGRIP1):c.266G>A (p.Arg89Gln)
NM_020366.4(RPGRIP1):c.2684C>A (p.Pro895His) rs2139237508
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2692A>G (p.Lys898Glu) rs1182119707
NM_020366.4(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.4(RPGRIP1):c.2710G>A (p.Gly904Ser) rs918924266
NM_020366.4(RPGRIP1):c.2711-3C>T
NM_020366.4(RPGRIP1):c.2721C>A (p.Asn907Lys)
NM_020366.4(RPGRIP1):c.2738A>G (p.Glu913Gly)
NM_020366.4(RPGRIP1):c.2776A>G (p.Lys926Glu) rs1883253921
NM_020366.4(RPGRIP1):c.277G>C (p.Glu93Gln)
NM_020366.4(RPGRIP1):c.2794C>A (p.Pro932Thr)
NM_020366.4(RPGRIP1):c.2801G>C (p.Ser934Thr)
NM_020366.4(RPGRIP1):c.2818G>C (p.Ala940Pro) rs376805437
NM_020366.4(RPGRIP1):c.2821C>G (p.Gln941Glu) rs2139246200
NM_020366.4(RPGRIP1):c.2827A>G (p.Lys943Glu) rs2139246249
NM_020366.4(RPGRIP1):c.2878G>A (p.Ala960Thr) rs35810926
NM_020366.4(RPGRIP1):c.2878G>T (p.Ala960Ser) rs35810926
NM_020366.4(RPGRIP1):c.2895G>C (p.Gln965His)
NM_020366.4(RPGRIP1):c.2917G>A (p.Val973Ile)
NM_020366.4(RPGRIP1):c.2923A>G (p.Ile975Val) rs2139250653
NM_020366.4(RPGRIP1):c.2930C>T (p.Ala977Val) rs1883345867
NM_020366.4(RPGRIP1):c.2932G>C (p.Gly978Arg)
NM_020366.4(RPGRIP1):c.2933G>A (p.Gly978Asp)
NM_020366.4(RPGRIP1):c.293C>T (p.Ser98Leu) rs1337129272
NM_020366.4(RPGRIP1):c.2948A>T (p.Lys983Met)
NM_020366.4(RPGRIP1):c.2960C>T (p.Pro987Leu) rs2139250992
NM_020366.4(RPGRIP1):c.2963A>G (p.His988Arg)
NM_020366.4(RPGRIP1):c.2963A>T (p.His988Leu)
NM_020366.4(RPGRIP1):c.2965G>T (p.Gly989Trp) rs774678526
NM_020366.4(RPGRIP1):c.2966G>T (p.Gly989Val) rs1349740244
NM_020366.4(RPGRIP1):c.2969G>A (p.Gly990Glu)
NM_020366.4(RPGRIP1):c.2993A>G (p.Gln998Arg) rs1883354997
NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu) rs756665749
NM_020366.4(RPGRIP1):c.3029G>T (p.Arg1010Ile) rs969637624
NM_020366.4(RPGRIP1):c.3044G>A (p.Gly1015Glu)
NM_020366.4(RPGRIP1):c.3055A>T (p.Met1019Leu) rs886050400
NM_020366.4(RPGRIP1):c.3085G>A (p.Gly1029Arg)
NM_020366.4(RPGRIP1):c.3099+2dup rs1883370936
NM_020366.4(RPGRIP1):c.3100-3A>G rs2139263237
NM_020366.4(RPGRIP1):c.3107A>C (p.Asn1036Thr) rs2139263302
NM_020366.4(RPGRIP1):c.3140_3141delinsTT (p.Ser1047Ile) rs1883601117
NM_020366.4(RPGRIP1):c.3151G>C (p.Asp1051His) rs1883602777
NM_020366.4(RPGRIP1):c.3152A>C (p.Asp1051Ala) rs775193329
NM_020366.4(RPGRIP1):c.320C>A (p.Ala107Glu)
NM_020366.4(RPGRIP1):c.320_322del (p.Ala107del) rs1424476051
NM_020366.4(RPGRIP1):c.322G>A (p.Gly108Arg)
NM_020366.4(RPGRIP1):c.3230C>T (p.Pro1077Leu) rs2139264096
NM_020366.4(RPGRIP1):c.3238+5T>A rs1375504755
NM_020366.4(RPGRIP1):c.3238+5T>C
NM_020366.4(RPGRIP1):c.3248C>G (p.Ser1083Cys) rs751421999
NM_020366.4(RPGRIP1):c.3248C>T (p.Ser1083Phe) rs751421999
NM_020366.4(RPGRIP1):c.3251C>T (p.Ser1084Phe) rs576011830
NM_020366.4(RPGRIP1):c.3257A>C (p.Gln1086Pro) rs1210425656
NM_020366.4(RPGRIP1):c.3271A>C (p.Ser1091Arg) rs749295693
NM_020366.4(RPGRIP1):c.3291C>T (p.Asp1097=) rs979101838
NM_020366.4(RPGRIP1):c.3293G>A (p.Ser1098Asn) rs2139288372
NM_020366.4(RPGRIP1):c.3308T>C (p.Val1103Ala)
NM_020366.4(RPGRIP1):c.3317T>C (p.Met1106Thr) rs769264626
NM_020366.4(RPGRIP1):c.3340-3C>G
NM_020366.4(RPGRIP1):c.3353T>C (p.Met1118Thr) rs1194195334
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu) rs137853911
NM_020366.4(RPGRIP1):c.335G>A (p.Arg112His) rs1566671532
NM_020366.4(RPGRIP1):c.3370T>A (p.Ser1124Thr)
NM_020366.4(RPGRIP1):c.3370T>C (p.Ser1124Pro) rs2139337000
NM_020366.4(RPGRIP1):c.340T>C (p.Ser114Pro) rs1192070874
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.4(RPGRIP1):c.3448G>A (p.Asp1150Asn) rs144704092
NM_020366.4(RPGRIP1):c.3448G>C (p.Asp1150His)
NM_020366.4(RPGRIP1):c.3454C>A (p.Pro1152Thr)
NM_020366.4(RPGRIP1):c.3454C>T (p.Pro1152Ser) rs1388726376
NM_020366.4(RPGRIP1):c.3461C>G (p.Ser1154Trp) rs188312873
NM_020366.4(RPGRIP1):c.3461C>T (p.Ser1154Leu) rs188312873
NM_020366.4(RPGRIP1):c.3521A>C (p.His1174Pro) rs2139338042
NM_020366.4(RPGRIP1):c.3522C>G (p.His1174Gln)
NM_020366.4(RPGRIP1):c.352C>A (p.Arg118Ser)
NM_020366.4(RPGRIP1):c.3539A>G (p.Asp1180Gly) rs2139349759
NM_020366.4(RPGRIP1):c.3545A>T (p.Asp1182Val)
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys) rs766353935
NM_020366.4(RPGRIP1):c.3553G>C (p.Glu1185Gln) rs766353935
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser) rs756503753
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_020366.4(RPGRIP1):c.3602A>G (p.Asp1201Gly) rs773540240
NM_020366.4(RPGRIP1):c.3615A>T (p.Gly1205=) rs2139350334
NM_020366.4(RPGRIP1):c.3617A>T (p.His1206Leu)
NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn) rs886044548
NM_020366.4(RPGRIP1):c.3652G>A (p.Glu1218Lys)
NM_020366.4(RPGRIP1):c.3660G>T (p.Lys1220Asn)
NM_020366.4(RPGRIP1):c.3671AAG[1] (p.Glu1225del) rs1885763072
NM_020366.4(RPGRIP1):c.3683A>G (p.Tyr1228Cys)
NM_020366.4(RPGRIP1):c.3689A>G (p.Tyr1230Cys)
NM_020366.4(RPGRIP1):c.3733G>A (p.Glu1245Lys)
NM_020366.4(RPGRIP1):c.3758C>G (p.Pro1253Arg) rs1168922642
NM_020366.4(RPGRIP1):c.3778A>G (p.Ile1260Val)
NM_020366.4(RPGRIP1):c.3779T>A (p.Ile1260Lys) rs752222755
NM_020366.4(RPGRIP1):c.3786G>T (p.Arg1262Ser) rs1479887241
NM_020366.4(RPGRIP1):c.3787C>A (p.Leu1263Met) rs1216759071
NM_020366.4(RPGRIP1):c.380A>G (p.His127Arg) rs2139156675
NM_020366.4(RPGRIP1):c.3823G>A (p.Ala1275Thr)
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.3842C>T (p.Thr1281Ile) rs1385915494
NM_020366.4(RPGRIP1):c.386A>G (p.His129Arg)
NM_020366.4(RPGRIP1):c.394G>T (p.Gly132Cys) rs2139156699
NM_020366.4(RPGRIP1):c.403A>G (p.Ser135Gly)
NM_020366.4(RPGRIP1):c.415G>A (p.Ala139Thr)
NM_020366.4(RPGRIP1):c.415G>C (p.Ala139Pro)
NM_020366.4(RPGRIP1):c.433G>C (p.Val145Leu) rs1881012139
NM_020366.4(RPGRIP1):c.458C>G (p.Ala153Gly) rs1881013380
NM_020366.4(RPGRIP1):c.490+3G>A rs2139156922
NM_020366.4(RPGRIP1):c.490+6A>T
NM_020366.4(RPGRIP1):c.491-3del
NM_020366.4(RPGRIP1):c.505C>T (p.Leu169=) rs1881075996
NM_020366.4(RPGRIP1):c.518C>A (p.Ala173Asp) rs1305296500
NM_020366.4(RPGRIP1):c.527C>T (p.Ser176Leu) rs1011857075
NM_020366.4(RPGRIP1):c.529T>C (p.Phe177Leu) rs1881077815
NM_020366.4(RPGRIP1):c.595G>T (p.Gly199Cys) rs777149627
NM_020366.4(RPGRIP1):c.620G>A (p.Ser207Asn) rs763667727
NM_020366.4(RPGRIP1):c.620G>T (p.Ser207Ile) rs763667727
NM_020366.4(RPGRIP1):c.636G>A (p.Met212Ile) rs1881122797
NM_020366.4(RPGRIP1):c.640A>C (p.Lys214Gln) rs767213505
NM_020366.4(RPGRIP1):c.643C>T (p.Pro215Ser)
NM_020366.4(RPGRIP1):c.668G>A (p.Ser223Asn) rs2139160510
NM_020366.4(RPGRIP1):c.668G>C (p.Ser223Thr) rs2139160510
NM_020366.4(RPGRIP1):c.671C>T (p.Ala224Val)
NM_020366.4(RPGRIP1):c.687C>A (p.Ser229Arg)
NM_020366.4(RPGRIP1):c.732G>A (p.Met244Ile) rs1881127716
NM_020366.4(RPGRIP1):c.840G>C (p.Lys280Asn)
NM_020366.4(RPGRIP1):c.85G>A (p.Gly29Ser) rs763401090
NM_020366.4(RPGRIP1):c.870G>T (p.Leu290Phe) rs1459207230
NM_020366.4(RPGRIP1):c.874A>G (p.Met292Val) rs1881380174
NM_020366.4(RPGRIP1):c.895G>A (p.Glu299Lys) rs550626567
NM_020366.4(RPGRIP1):c.8A>G (p.His3Arg) rs2139132081
NM_020366.4(RPGRIP1):c.925C>G (p.Gln309Glu)
NM_020366.4(RPGRIP1):c.930+4C>T
NM_020366.4(RPGRIP1):c.931-3C>G
NM_020366.4(RPGRIP1):c.933T>A (p.Asn311Lys)
NM_020366.4(RPGRIP1):c.950C>T (p.Ala317Val) rs2139175328
NM_020366.4(RPGRIP1):c.953C>G (p.Ala318Gly)
NM_020366.4(RPGRIP1):c.956A>G (p.His319Arg) rs756920414
NM_020366.4(RPGRIP1):c.964CTC[1] (p.Leu323del)
NM_020366.4(RPGRIP1):c.967C>T (p.Leu323Phe)
NM_020366.4(RPGRIP1):c.985C>G (p.Leu329Val) rs776485302

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