ClinVar Miner

List of variants in gene RIMS1 studied for cone-rod dystrophy 7

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) rs2463730 0.97497
NM_014989.7(RIMS1):c.666A>G (p.Leu222=) rs2249021 0.68629
NM_014989.7(RIMS1):c.*1038A>G rs2815736 0.52128
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) rs114505309 0.27986
NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=) rs2815738 0.20033
NM_014989.7(RIMS1):c.*1964C>A rs1055270 0.13021
NM_014989.7(RIMS1):c.*1494T>C rs73750480 0.11554
NM_014989.7(RIMS1):c.*1076A>G rs9446638 0.11417
NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu) rs41265501 0.02304
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=) rs77121218 0.01826
NM_014989.7(RIMS1):c.*75G>A rs11751101 0.01731
NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu) rs116476753 0.01524
NM_014989.7(RIMS1):c.*280C>T rs9446637 0.01505
NM_014989.7(RIMS1):c.*138G>T rs55642181 0.00886
NM_014989.7(RIMS1):c.648G>A (p.Ser216=) rs116303981 0.00829
NM_014989.7(RIMS1):c.2895G>A (p.Pro965=) rs41265493 0.00819
NM_014989.7(RIMS1):c.2670T>C (p.His890=) rs34821160 0.00550
NM_014989.7(RIMS1):c.*2125G>C rs138055062 0.00491
NM_014989.7(RIMS1):c.*2251G>A rs116453051 0.00452
NM_014989.7(RIMS1):c.*1991T>G rs41265503 0.00445
NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=) rs61736795 0.00409
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr) rs200422266 0.00320
NM_014989.7(RIMS1):c.438C>T (p.Arg146=) rs142196418 0.00298
NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=) rs144188801 0.00249
NM_014989.7(RIMS1):c.3308+12T>G rs115294253 0.00192
NM_014989.7(RIMS1):c.3171C>T (p.Ser1057=) rs201355521 0.00174
NM_014989.7(RIMS1):c.*283A>G rs140634975 0.00168
NM_014989.7(RIMS1):c.*1935A>G rs115062476 0.00159
NM_014989.7(RIMS1):c.594A>G (p.Thr198=) rs149442461 0.00147
NM_014989.7(RIMS1):c.*1702G>A rs539479642 0.00121
NM_014989.7(RIMS1):c.-127G>A rs371884894 0.00121
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=) rs190562383 0.00108
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_014989.7(RIMS1):c.2367T>C (p.Asp789=) rs370823273 0.00077
NM_014989.7(RIMS1):c.*1690G>A rs773379819 0.00059
NM_014989.7(RIMS1):c.813-14T>G rs180682682 0.00058
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) rs199629596 0.00050
NM_014989.7(RIMS1):c.-140T>C rs528494309 0.00049
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=) rs369147538 0.00046
NM_014989.7(RIMS1):c.-121C>T rs532687860 0.00045
NM_014989.7(RIMS1):c.*1280G>A rs574994605 0.00043
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) rs201017334 0.00039
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) rs200637817 0.00033
NM_014989.7(RIMS1):c.*2291C>T rs78214534 0.00032
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=) rs186078277 0.00029
NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=) rs372513852 0.00025
NM_014989.7(RIMS1):c.942G>A (p.Arg314=) rs185069362 0.00025
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_014989.7(RIMS1):c.*1458A>T rs549225918 0.00023
NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro) rs201798320 0.00018
NM_014989.7(RIMS1):c.3194+9C>A rs564292772 0.00017
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=) rs201885523 0.00016
NM_014989.7(RIMS1):c.798A>G (p.Glu266=) rs755868505 0.00016
NM_014989.7(RIMS1):c.*1310A>G rs191038983 0.00015
NM_014989.7(RIMS1):c.2242-12C>T rs190023733 0.00014
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr) rs201355053 0.00014
NM_014989.7(RIMS1):c.165-5C>G rs532652925 0.00013
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) rs752875047 0.00010
NM_014989.7(RIMS1):c.3588C>T (p.His1196=) rs762158019 0.00009
NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=) rs769179703 0.00008
NM_014989.7(RIMS1):c.*2386T>G rs886061723 0.00007
NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu) rs371189625 0.00007
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) rs367601102 0.00007
NM_014989.7(RIMS1):c.4860+15G>A rs553488575 0.00007
NM_014989.7(RIMS1):c.*44G>A rs762926493 0.00006
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) rs121918302 0.00006
NM_014989.7(RIMS1):c.423G>A (p.Ala141=) rs377211296 0.00006
NM_014989.7(RIMS1):c.*1025G>T rs538581208 0.00005
NM_014989.7(RIMS1):c.*1682C>T rs886061721 0.00005
NM_014989.7(RIMS1):c.*397G>A rs575379426 0.00005
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=) rs769837216 0.00005
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) rs200935038 0.00005
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg) rs757160554 0.00005
NM_014989.7(RIMS1):c.*2132A>G rs985097971 0.00004
NM_014989.7(RIMS1):c.*453G>C rs555043314 0.00004
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu) rs767699562 0.00004
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu) rs757548948 0.00004
NM_014989.7(RIMS1):c.*542A>T rs774599192 0.00003
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr) rs541997223 0.00003
NM_014989.7(RIMS1):c.1758G>A (p.Thr586=) rs374761298 0.00003
NM_014989.7(RIMS1):c.39C>G (p.Pro13=) rs538562890 0.00003
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=) rs200818374 0.00003
NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala) rs996767502 0.00002
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter) rs528476500 0.00002
NM_014989.7(RIMS1):c.672A>G (p.Thr224=) rs778273984 0.00002
NM_014989.7(RIMS1):c.*202G>C rs1265999499 0.00001
NM_014989.7(RIMS1):c.*545C>A rs886061714 0.00001
NM_014989.7(RIMS1):c.*783G>A rs150486970 0.00001
NM_014989.7(RIMS1):c.1386G>A (p.Pro462=) rs946973429 0.00001
NM_014989.7(RIMS1):c.1556C>T (p.Ser519Phe) rs886061707 0.00001
NM_014989.7(RIMS1):c.1679-20563C>T rs891525901 0.00001
NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr) rs762108313 0.00001
NM_014989.7(RIMS1):c.2241T>C (p.Ser747=) rs760492397 0.00001
NM_014989.7(RIMS1):c.2545-4T>C rs747921988 0.00001
NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu) rs2076646164 0.00001
NM_014989.7(RIMS1):c.2865T>C (p.Ser955=) rs2076658233 0.00001
NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys) rs764444309 0.00001
NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=) rs769791945 0.00001
NM_014989.7(RIMS1):c.3279A>G (p.Val1093=) rs375979731 0.00001
NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr) rs770686490 0.00001
NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr) rs200471435 0.00001
NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met) rs746893761 0.00001
NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr) rs552482751 0.00001
NM_014989.7(RIMS1):c.459C>T (p.Asn153=) rs1238525429 0.00001
NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=) rs376289027 0.00001
NM_014989.7(RIMS1):c.*1134C>T rs1175994935
NM_014989.7(RIMS1):c.*1230A>C rs1379307160
NM_014989.7(RIMS1):c.*1355C>T rs886061716
NM_014989.7(RIMS1):c.*1446A>G rs886061719
NM_014989.7(RIMS1):c.*189A>T rs1409375849
NM_014989.7(RIMS1):c.*2049T>A rs542135172
NM_014989.7(RIMS1):c.*2357C>G rs2098844396
NM_014989.7(RIMS1):c.*2429G>A rs570975514
NM_014989.7(RIMS1):c.*864G>T rs886061715
NM_014989.7(RIMS1):c.*941T>C rs2098836015
NM_014989.7(RIMS1):c.-181G>A rs886061704
NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu) rs2048555576
NM_014989.7(RIMS1):c.1679-16551C>T rs1012788466
NM_014989.7(RIMS1):c.1679-20589C>T
NM_014989.7(RIMS1):c.1704T>C (p.Asp568=) rs886061708
NM_014989.7(RIMS1):c.1957+10C>A rs376761576
NM_014989.7(RIMS1):c.2241+14G>A rs1590432210
NM_014989.7(RIMS1):c.2770+2T>C rs1590681805
NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg) rs2076629294
NM_014989.7(RIMS1):c.2792G>A (p.Arg931Lys) rs776281976
NM_014989.7(RIMS1):c.2868T>C (p.Pro956=) rs2076660465
NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg) rs546636252
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_014989.7(RIMS1):c.3554+13T>C rs2091432283
NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg) rs2095260209
NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val) rs2095619223
NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile) rs2098688415
NM_014989.7(RIMS1):c.459+12A>G rs552585116
NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg) rs2098829238
NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly)
NM_014989.7(RIMS1):c.913G>C (p.Val305Leu) rs886061705
NM_014989.7(RIMS1):c.928C>G (p.Arg310Gly) rs758719701
NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys) rs758719701
NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser) rs2048521720

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.