ClinVar Miner

List of variants in gene RPGRIP1 reported as uncertain significance for Leber congenital amaurosis 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 451
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
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.968T>C (p.Leu323Pro) rs199982906 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.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.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.3239-14C>T rs542859849 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.(?_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.1615_1624del (p.Glu539fs) rs1420750126
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.1800_1805del (p.Ser601_Leu602del)
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.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.2367+23del rs781728563
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.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.94A>G (p.Met32Val) rs2139144559
NM_020366.4(RPGRIP1):c.950C>T (p.Ala317Val) rs2139175328
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
NM_020366.4:c.1077+1_3100-1dup

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.