ClinVar Miner

List of variants in gene RGR studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_001012720.2(RGR):c.27T>C (p.Thr9=) rs2279227 0.61246
NM_001012720.2(RGR):c.459C>T (p.Tyr153=) rs1042454 0.50840
NM_001012720.2(RGR):c.*65A>G rs3526 0.21588
NM_001012720.2(RGR):c.*416A>G rs11817115 0.11877
NM_001012720.2(RGR):c.19C>T (p.Leu7=) rs11200938 0.06594
NM_001012720.2(RGR):c.630+16C>T rs74145779 0.06119
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_001012720.2(RGR):c.250G>A (p.Gly84Ser) rs116754489 0.00224
NM_001012720.2(RGR):c.318T>C (p.Ser106=) rs143761967 0.00093
NM_001012720.2(RGR):c.454C>A (p.His152Asn) rs150808273 0.00081
NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr) rs149516779 0.00080
NM_001012720.2(RGR):c.249C>T (p.Tyr83=) rs149839596 0.00076
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe) rs146536539 0.00044
NM_001012720.2(RGR):c.12C>A (p.Thr4=) rs773443057 0.00021
NM_001012720.2(RGR):c.385G>A (p.Val129Ile) rs138630905 0.00019
NM_001012720.2(RGR):c.595A>G (p.Met199Val) rs75812744 0.00019
NM_001012720.2(RGR):c.685A>C (p.Ile229Leu) rs540094720 0.00015
NM_001012720.2(RGR):c.699C>T (p.Tyr233=) rs372512494 0.00015
NM_001012720.2(RGR):c.351C>T (p.Tyr117=) rs774019195 0.00012
NM_001012720.2(RGR):c.110C>T (p.Thr37Ile) rs774849552 0.00010
NM_001012720.2(RGR):c.666C>T (p.Leu222=) rs575867273 0.00010
NM_001012720.2(RGR):c.845C>T (p.Pro282Leu) rs200927654 0.00010
NM_001012720.2(RGR):c.142C>T (p.Arg48Trp) rs139595177 0.00009
NM_001012720.2(RGR):c.477G>A (p.Gly159=) rs371215606 0.00009
NM_001012720.2(RGR):c.785_786dup (p.Ile263fs) rs770085833 0.00009
NM_001012720.2(RGR):c.297G>A (p.Ala99=) rs373030585 0.00008
NM_001012720.2(RGR):c.201G>A (p.Leu67=) rs372829444 0.00007
NM_001012720.2(RGR):c.532T>C (p.Phe178Leu) rs201379107 0.00007
NM_001012720.2(RGR):c.745-13T>C rs760426665 0.00007
NM_001012720.2(RGR):c.183G>A (p.Ala61=) rs184408533 0.00006
NM_001012720.2(RGR):c.258C>T (p.Asp86=) rs561362389 0.00006
NM_001012720.2(RGR):c.394G>T (p.Val132Leu) rs370808520 0.00006
NM_001012720.2(RGR):c.190G>A (p.Gly64Arg) rs144223728 0.00005
NM_001012720.2(RGR):c.72G>A (p.Leu24=) rs373905383 0.00005
NM_001012720.2(RGR):c.794A>G (p.Tyr265Cys) rs371107677 0.00005
NM_001012720.2(RGR):c.259G>A (p.Gly87Ser) rs369457258 0.00004
NM_001012720.2(RGR):c.34G>A (p.Gly12Arg) rs751874712 0.00004
NM_001012720.2(RGR):c.512+3G>A rs780748158 0.00004
NM_001012720.2(RGR):c.513-13G>A rs770919166 0.00004
NM_001012720.2(RGR):c.744+8T>C rs767230608 0.00004
NM_001012720.2(RGR):c.88G>A (p.Gly30Ser) rs552547432 0.00004
NM_001012720.2(RGR):c.135G>A (p.Pro45=) rs753086873 0.00003
NM_001012720.2(RGR):c.182C>T (p.Ala61Val) rs199679824 0.00003
NM_001012720.2(RGR):c.235C>T (p.Arg79Trp) rs201335015 0.00003
NM_001012720.2(RGR):c.236G>A (p.Arg79Gln) rs761554381 0.00003
NM_001012720.2(RGR):c.274G>A (p.Gly92Ser) rs550204029 0.00003
NM_001012720.2(RGR):c.338G>A (p.Arg113His) rs571639109 0.00003
NM_001012720.2(RGR):c.358+4T>C rs1356322249 0.00003
NM_001012720.2(RGR):c.410T>A (p.Leu137Gln) rs374204783 0.00003
NM_001012720.2(RGR):c.460G>A (p.Asp154Asn) rs750768609 0.00003
NM_001012720.2(RGR):c.59G>T (p.Gly20Val) rs777267592 0.00003
NM_001012720.2(RGR):c.612G>A (p.Gly204=) rs749839913 0.00003
NM_001012720.2(RGR):c.630+6G>A rs753369140 0.00003
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_001012720.2(RGR):c.751G>A (p.Ala251Thr) rs777299739 0.00003
NM_001012720.2(RGR):c.80-15C>T rs777166801 0.00003
NM_001012720.2(RGR):c.809A>G (p.Glu270Gly) rs766417320 0.00003
NM_001012720.2(RGR):c.822G>C (p.Arg274Ser) rs375673754 0.00003
NM_001012720.2(RGR):c.840C>G (p.Leu280=) rs748945467 0.00003
NM_001012720.2(RGR):c.846G>A (p.Pro282=) rs151338362 0.00003
NM_001012720.2(RGR):c.865C>T (p.Arg289Ter) rs371549612 0.00003
NM_001012720.2(RGR):c.87C>T (p.Ser29=) rs779017984 0.00003
NM_001012720.2(RGR):c.143G>A (p.Arg48Gln) rs374080340 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001012720.2(RGR):c.218C>G (p.Ala73Gly) rs1410405059 0.00002
NM_001012720.2(RGR):c.21G>A (p.Leu7=) rs750959450 0.00002
NM_001012720.2(RGR):c.296C>T (p.Ala99Val) rs773435796 0.00002
NM_001012720.2(RGR):c.298T>C (p.Leu100=) rs767389792 0.00002
NM_001012720.2(RGR):c.330A>C (p.Ala110=) rs138044637 0.00002
NM_001012720.2(RGR):c.409C>T (p.Leu137=) rs779580620 0.00002
NM_001012720.2(RGR):c.585C>T (p.Ser195=) rs199525212 0.00002
NM_001012720.2(RGR):c.630+10C>T rs192139791 0.00002
NM_001012720.2(RGR):c.630+17G>A rs756267636 0.00002
NM_001012720.2(RGR):c.714C>T (p.Asp238=) rs772574741 0.00002
NM_001012720.2(RGR):c.728C>T (p.Ser243Phe) rs144262093 0.00002
NM_001012720.2(RGR):c.744+13C>T rs757452777 0.00002
NM_001012720.2(RGR):c.756C>T (p.Leu252=) rs770411379 0.00002
NM_001012720.2(RGR):c.763A>T (p.Lys255Ter) rs148706915 0.00002
NM_001012720.2(RGR):c.777G>A (p.Thr259=) rs775359009 0.00002
NM_001012720.2(RGR):c.866G>A (p.Arg289Gln) rs768395760 0.00002
NM_001012720.2(RGR):c.106C>T (p.Leu36=) rs763122712 0.00001
NM_001012720.2(RGR):c.160C>T (p.Leu54=) rs756805886 0.00001
NM_001012720.2(RGR):c.174G>A (p.Leu58=) rs778500739 0.00001
NM_001012720.2(RGR):c.192G>A (p.Gly64=) rs551506238 0.00001
NM_001012720.2(RGR):c.210C>T (p.Leu70=) rs868505157 0.00001
NM_001012720.2(RGR):c.211G>A (p.Val71Ile) rs774404884 0.00001
NM_001012720.2(RGR):c.211del (p.Val71fs) rs751615944 0.00001
NM_001012720.2(RGR):c.237-26_237-16del rs1468660190 0.00001
NM_001012720.2(RGR):c.243G>C (p.Trp81Cys) rs751515197 0.00001
NM_001012720.2(RGR):c.250_257dup (p.Asp86fs) rs1564548704 0.00001
NM_001012720.2(RGR):c.253T>C (p.Ser85Pro) rs1284206005 0.00001
NM_001012720.2(RGR):c.255G>A (p.Ser85=) rs758479651 0.00001
NM_001012720.2(RGR):c.328G>A (p.Ala110Thr) rs780231448 0.00001
NM_001012720.2(RGR):c.332G>T (p.Trp111Leu) rs1842782897 0.00001
NM_001012720.2(RGR):c.33C>T (p.Phe11=) rs200464418 0.00001
NM_001012720.2(RGR):c.358+17C>G rs373521085 0.00001
NM_001012720.2(RGR):c.358+1G>A rs548051515 0.00001
NM_001012720.2(RGR):c.358C>T (p.Arg120Cys) rs775412390 0.00001
NM_001012720.2(RGR):c.359-6del rs753782821 0.00001
NM_001012720.2(RGR):c.379T>A (p.Ser127Thr) rs145786088 0.00001
NM_001012720.2(RGR):c.382G>A (p.Ala128Thr) rs1046323422 0.00001
NM_001012720.2(RGR):c.384C>T (p.Ala128=) rs752799440 0.00001
NM_001012720.2(RGR):c.397C>T (p.Leu133Phe) rs779333196 0.00001
NM_001012720.2(RGR):c.402C>T (p.Phe134=) rs745567392 0.00001
NM_001012720.2(RGR):c.42C>T (p.Leu14=) rs142610642 0.00001
NM_001012720.2(RGR):c.432T>C (p.Ala144=) rs1406036965 0.00001
NM_001012720.2(RGR):c.446G>A (p.Gly149Asp) rs760855158 0.00001
NM_001012720.2(RGR):c.475G>A (p.Gly159Arg) rs975816717 0.00001
NM_001012720.2(RGR):c.480A>G (p.Thr160=) rs1175375539 0.00001
NM_001012720.2(RGR):c.513-14C>T rs916194875 0.00001
NM_001012720.2(RGR):c.542C>T (p.Ser181Phe) rs769704487 0.00001
NM_001012720.2(RGR):c.556G>A (p.Ala186Thr) rs1476804289 0.00001
NM_001012720.2(RGR):c.575C>T (p.Thr192Met) rs767225913 0.00001
NM_001012720.2(RGR):c.582T>G (p.Thr194=) rs753888141 0.00001
NM_001012720.2(RGR):c.584C>G (p.Ser195Cys) rs778893091 0.00001
NM_001012720.2(RGR):c.587A>C (p.Tyr196Ser) rs758081686 0.00001
NM_001012720.2(RGR):c.60G>A (p.Gly20=) rs749192962 0.00001
NM_001012720.2(RGR):c.630+11C>G rs758215450 0.00001
NM_001012720.2(RGR):c.630+8C>T rs765290389 0.00001
NM_001012720.2(RGR):c.631-12A>G rs200553193 0.00001
NM_001012720.2(RGR):c.631-2A>G rs201819531 0.00001
NM_001012720.2(RGR):c.631-7T>C rs1343890617 0.00001
NM_001012720.2(RGR):c.63G>A (p.Met21Ile) rs369719874 0.00001
NM_001012720.2(RGR):c.667G>A (p.Gly223Ser) rs778953239 0.00001
NM_001012720.2(RGR):c.676C>T (p.Pro226Ser) rs1254582525 0.00001
NM_001012720.2(RGR):c.680A>G (p.Tyr227Cys) rs772430451 0.00001
NM_001012720.2(RGR):c.69A>G (p.Leu23=) rs1375075489 0.00001
NM_001012720.2(RGR):c.70C>T (p.Leu24=) rs774316034 0.00001
NM_001012720.2(RGR):c.731C>T (p.Pro244Leu) rs1262051908 0.00001
NM_001012720.2(RGR):c.744+3A>G rs986062359 0.00001
NM_001012720.2(RGR):c.745-7A>G rs374218707 0.00001
NM_001012720.2(RGR):c.745-9C>T rs765401747 0.00001
NM_001012720.2(RGR):c.747G>A (p.Val249=) rs957318154 0.00001
NM_001012720.2(RGR):c.765A>T (p.Lys255Asn) rs773891800 0.00001
NM_001012720.2(RGR):c.774C>T (p.Pro258=) rs1272727087 0.00001
NM_001012720.2(RGR):c.776C>T (p.Thr259Met) rs772033525 0.00001
NM_001012720.2(RGR):c.780C>T (p.Ile260=) rs760477854 0.00001
NM_001012720.2(RGR):c.79+10G>A rs777050692 0.00001
NM_001012720.2(RGR):c.79+7C>T rs771969695 0.00001
NM_001012720.2(RGR):c.790A>C (p.Asn264His) rs142268655 0.00001
NM_001012720.2(RGR):c.803G>A (p.Gly268Asp) rs763221617 0.00001
NM_001012720.2(RGR):c.829T>C (p.Trp277Arg) rs1842917600 0.00001
NM_001012720.2(RGR):c.96C>T (p.Ser32=) rs1042248680 0.00001
NC_000010.10:g.(?_86004847)_(86018395_?)dup
NC_000010.10:g.(?_86008658)_(86008819_?)del
NC_000010.10:g.(?_86017629)_(86018395_?)dup
NC_000010.11:g.(?_84248910)_(84249043_?)del
NM_001012720.2(RGR):c.101A>G (p.Asn34Ser) rs770033750
NM_001012720.2(RGR):c.132C>G (p.Thr44=) rs1042283952
NM_001012720.2(RGR):c.139C>T (p.Leu47=) rs1393616057
NM_001012720.2(RGR):c.147T>A (p.Thr49=) rs2132876978
NM_001012720.2(RGR):c.168G>T (p.Leu56=) rs2492625706
NM_001012720.2(RGR):c.17C>T (p.Ala6Val)
NM_001012720.2(RGR):c.201G>C (p.Leu67=) rs372829444
NM_001012720.2(RGR):c.207C>T (p.Ala69=) rs2492625869
NM_001012720.2(RGR):c.212T>G (p.Val71Gly) rs2492625900
NM_001012720.2(RGR):c.230T>G (p.Leu77Arg) rs761126266
NM_001012720.2(RGR):c.235_236delinsAT (p.Arg79Met) rs797044673
NM_001012720.2(RGR):c.236+19G>C rs2492626112
NM_001012720.2(RGR):c.236+7G>A
NM_001012720.2(RGR):c.237-20G>C rs1396314774
NM_001012720.2(RGR):c.239G>A (p.Arg80His) rs780295976
NM_001012720.2(RGR):c.243G>A (p.Trp81Ter) rs751515197
NM_001012720.2(RGR):c.243G>T (p.Trp81Cys) rs751515197
NM_001012720.2(RGR):c.254C>T (p.Ser85Leu) rs747435661
NM_001012720.2(RGR):c.25A>T (p.Thr9Ser) rs1842731103
NM_001012720.2(RGR):c.264C>T (p.Cys88=) rs2132878758
NM_001012720.2(RGR):c.269C>T (p.Ala90Val) rs2492629087
NM_001012720.2(RGR):c.272A>G (p.His91Arg) rs1842781562
NM_001012720.2(RGR):c.273C>T (p.His91=) rs148991807
NM_001012720.2(RGR):c.274G>T (p.Gly92Cys) rs550204029
NM_001012720.2(RGR):c.276C>T (p.Gly92=)
NM_001012720.2(RGR):c.277T>C (p.Phe93Leu) rs1157211850
NM_001012720.2(RGR):c.305G>C (p.Ser102Thr) rs1237096528
NM_001012720.2(RGR):c.327C>T (p.Ile109=) rs758536296
NM_001012720.2(RGR):c.32T>G (p.Phe11Cys) rs1842731338
NM_001012720.2(RGR):c.337C>A (p.Arg113Ser) rs142050467
NM_001012720.2(RGR):c.337C>T (p.Arg113Cys) rs142050467
NM_001012720.2(RGR):c.343C>A (p.His115Asn) rs2492629361
NM_001012720.2(RGR):c.358+15T>C
NM_001012720.2(RGR):c.358+17C>T rs373521085
NM_001012720.2(RGR):c.359-14T>A rs2492638576
NM_001012720.2(RGR):c.359-19C>T rs2492638571
NM_001012720.2(RGR):c.359-7T>C
NM_001012720.2(RGR):c.363C>T (p.Ser121=)
NM_001012720.2(RGR):c.365A>T (p.Gln122Leu) rs950134021
NM_001012720.2(RGR):c.381A>G (p.Ser127=) rs2492638698
NM_001012720.2(RGR):c.384C>A (p.Ala128=) rs752799440
NM_001012720.2(RGR):c.425G>A (p.Trp142Ter) rs776445082
NM_001012720.2(RGR):c.431C>T (p.Ala144Val) rs748049582
NM_001012720.2(RGR):c.444G>A (p.Leu148=) rs1193172183
NM_001012720.2(RGR):c.44A>C (p.Glu15Ala) rs780865488
NM_001012720.2(RGR):c.451G>T (p.Gly151Cys) rs1299584611
NM_001012720.2(RGR):c.454C>T (p.His152Tyr) rs150808273
NM_001012720.2(RGR):c.455A>G (p.His152Arg) rs1228165666
NM_001012720.2(RGR):c.459C>G (p.Tyr153Ter) rs1042454
NM_001012720.2(RGR):c.463T>A (p.Tyr155Asn) rs2492639143
NM_001012720.2(RGR):c.468G>A (p.Glu156=) rs1446996542
NM_001012720.2(RGR):c.476G>T (p.Gly159Val)
NM_001012720.2(RGR):c.477G>C (p.Gly159=) rs371215606
NM_001012720.2(RGR):c.478A>G (p.Thr160Ala) rs779703570
NM_001012720.2(RGR):c.499T>C (p.Ser167Pro) rs2492639268
NM_001012720.2(RGR):c.501C>T (p.Ser167=) rs2132884361
NM_001012720.2(RGR):c.512+1G>T rs1564550302
NM_001012720.2(RGR):c.512+8G>T rs777466420
NM_001012720.2(RGR):c.512+9G>C rs1842839141
NM_001012720.2(RGR):c.513-10C>T rs1227915073
NM_001012720.2(RGR):c.513-12C>T rs2132886142
NM_001012720.2(RGR):c.513-13G>C rs770919166
NM_001012720.2(RGR):c.513-16C>T rs2132886126
NM_001012720.2(RGR):c.513-1G>A rs2492642048
NM_001012720.2(RGR):c.513-4G>A
NM_001012720.2(RGR):c.525C>T (p.Ser175=) rs2132886188
NM_001012720.2(RGR):c.563C>T (p.Pro188Leu) rs751897039
NM_001012720.2(RGR):c.565C>G (p.Leu189Val) rs794727709
NM_001012720.2(RGR):c.567C>T (p.Leu189=) rs2492642219
NM_001012720.2(RGR):c.576G>A (p.Thr192=) rs752236209
NM_001012720.2(RGR):c.576G>C (p.Thr192=) rs752236209
NM_001012720.2(RGR):c.576G>T (p.Thr192=) rs752236209
NM_001012720.2(RGR):c.58_59delinsAT (p.Gly20Met) rs2492621044
NM_001012720.2(RGR):c.630+18G>A
NM_001012720.2(RGR):c.630+20G>C rs533128134
NM_001012720.2(RGR):c.631-3C>A rs1462095775
NM_001012720.2(RGR):c.636C>T (p.Asn212=) rs2132891886
NM_001012720.2(RGR):c.637del (p.Thr213fs) rs2492650117
NM_001012720.2(RGR):c.639C>T (p.Thr213=)
NM_001012720.2(RGR):c.648A>T (p.Pro216=)
NM_001012720.2(RGR):c.650C>G (p.Ala217Gly) rs754724090
NM_001012720.2(RGR):c.662T>A (p.Leu221Gln) rs1395339496
NM_001012720.2(RGR):c.671G>A (p.Trp224Ter) rs1342133425
NM_001012720.2(RGR):c.678C>G (p.Pro226=) rs1483226805
NM_001012720.2(RGR):c.683C>T (p.Ala228Val) rs1250423883
NM_001012720.2(RGR):c.701C>T (p.Ala234Val)
NM_001012720.2(RGR):c.703G>A (p.Val235Ile) rs776429279
NM_001012720.2(RGR):c.709G>A (p.Ala237Thr)
NM_001012720.2(RGR):c.729C>T (p.Ser243=) rs1589337352
NM_001012720.2(RGR):c.732C>A (p.Pro244=) rs1270652283
NM_001012720.2(RGR):c.735A>T (p.Lys245Asn)
NM_001012720.2(RGR):c.741G>C (p.Gln247His) rs1842909346
NM_001012720.2(RGR):c.744+14T>G rs777778795
NM_001012720.2(RGR):c.744+16G>A rs758455051
NM_001012720.2(RGR):c.744+17T>G rs2492651033
NM_001012720.2(RGR):c.745-16T>C
NM_001012720.2(RGR):c.745-3C>G
NM_001012720.2(RGR):c.745-4A>G rs1842915632
NM_001012720.2(RGR):c.745-5A>T
NM_001012720.2(RGR):c.745G>C (p.Val249Leu) rs755518071
NM_001012720.2(RGR):c.750C>A (p.Pro250=) rs748553756
NM_001012720.2(RGR):c.750C>T (p.Pro250=) rs748553756
NM_001012720.2(RGR):c.752C>T (p.Ala251Val) rs2492652531
NM_001012720.2(RGR):c.754C>T (p.Leu252Phe) rs146060475
NM_001012720.2(RGR):c.79+11C>G rs762090603
NM_001012720.2(RGR):c.793T>C (p.Tyr265His) rs2492652699
NM_001012720.2(RGR):c.794A>T (p.Tyr265Phe) rs371107677
NM_001012720.2(RGR):c.799del (p.Leu267fs) rs2492652740
NM_001012720.2(RGR):c.80-17C>T rs2132876813
NM_001012720.2(RGR):c.80-20G>A rs2132876803
NM_001012720.2(RGR):c.80-2A>C rs1842762153
NM_001012720.2(RGR):c.816del (p.Cys273fs) rs2492652819
NM_001012720.2(RGR):c.823G>T (p.Gly275Ter) rs753194065
NM_001012720.2(RGR):c.824dup (p.Ile276fs) rs1842917477
NM_001012720.2(RGR):c.836G>T (p.Cys279Phe) rs762843333
NM_001012720.2(RGR):c.840C>T (p.Leu280=) rs748945467
NM_001012720.2(RGR):c.858G>A (p.Glu286=) rs997944407
NM_001012720.2(RGR):c.862G>A (p.Asp288Asn)
NM_001012720.2(RGR):c.868A>G (p.Thr290Ala) rs1294711233
NM_001012720.2(RGR):c.86C>A (p.Ser29Tyr) rs2492625286
NM_001012720.2(RGR):c.870C>A (p.Thr290=)

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