ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP
NM_001168407.2(RIMS1):c.1536-963del rs587783021
NM_001168407.2(RIMS1):c.88C>T (p.Arg30Ter) rs891525901
NM_001168410.2(RIMS1):c.34C>T (p.His12Tyr)
NM_014989.5(RIMS1):c.*1025G>T rs538581208
NM_014989.5(RIMS1):c.*1038A>G rs2815736
NM_014989.5(RIMS1):c.*1076A>G rs9446638
NM_014989.5(RIMS1):c.*1134C>T
NM_014989.5(RIMS1):c.*1230A>C
NM_014989.5(RIMS1):c.*1280G>A
NM_014989.5(RIMS1):c.*1310A>G
NM_014989.5(RIMS1):c.*1355C>T rs886061716
NM_014989.5(RIMS1):c.*138G>T rs55642181
NM_014989.5(RIMS1):c.*1446A>G rs886061719
NM_014989.5(RIMS1):c.*1458A>T rs549225918
NM_014989.5(RIMS1):c.*1494T>C rs73750480
NM_014989.5(RIMS1):c.*1682C>T rs886061721
NM_014989.5(RIMS1):c.*1690G>A
NM_014989.5(RIMS1):c.*1702G>A
NM_014989.5(RIMS1):c.*189A>T
NM_014989.5(RIMS1):c.*1935A>G rs115062476
NM_014989.5(RIMS1):c.*1964C>A rs1055270
NM_014989.5(RIMS1):c.*1991T>G rs41265503
NM_014989.5(RIMS1):c.*202G>C
NM_014989.5(RIMS1):c.*2049T>A rs542135172
NM_014989.5(RIMS1):c.*2125G>C rs138055062
NM_014989.5(RIMS1):c.*2132A>G
NM_014989.5(RIMS1):c.*2251G>A rs116453051
NM_014989.5(RIMS1):c.*2291C>T rs78214534
NM_014989.5(RIMS1):c.*2357C>G
NM_014989.5(RIMS1):c.*2386T>G rs886061723
NM_014989.5(RIMS1):c.*2429G>A
NM_014989.5(RIMS1):c.*280C>T rs9446637
NM_014989.5(RIMS1):c.*283A>G rs140634975
NM_014989.5(RIMS1):c.*397G>A
NM_014989.5(RIMS1):c.*44G>A rs762926493
NM_014989.5(RIMS1):c.*453G>C
NM_014989.5(RIMS1):c.*542A>T rs774599192
NM_014989.5(RIMS1):c.*545C>A rs886061714
NM_014989.5(RIMS1):c.*75G>A rs11751101
NM_014989.5(RIMS1):c.*783G>A rs150486970
NM_014989.5(RIMS1):c.*864G>T rs886061715
NM_014989.5(RIMS1):c.*941T>C
NM_014989.5(RIMS1):c.-121C>T
NM_014989.5(RIMS1):c.-127G>A rs371884894
NM_014989.5(RIMS1):c.-13G>T rs763463323
NM_014989.5(RIMS1):c.-140T>C rs528494309
NM_014989.5(RIMS1):c.-181G>A rs886061704
NM_014989.5(RIMS1):c.-249C>G rs868415047
NM_014989.5(RIMS1):c.-302C>T rs577898637
NM_014989.5(RIMS1):c.1083A>G (p.Leu361=) rs2463730
NM_014989.5(RIMS1):c.1088G>T (p.Arg363Leu)
NM_014989.5(RIMS1):c.1209G>A (p.Ala403=) rs114505309
NM_014989.5(RIMS1):c.1297A>G (p.Thr433Ala)
NM_014989.5(RIMS1):c.1311G>A (p.Arg437=) rs769837216
NM_014989.5(RIMS1):c.1364G>A (p.Gly455Glu)
NM_014989.5(RIMS1):c.1384C>A (p.Pro462Thr) rs541997223
NM_014989.5(RIMS1):c.1386G>A (p.Pro462=)
NM_014989.5(RIMS1):c.1459G>A (p.Ala487Thr) rs200422266
NM_014989.5(RIMS1):c.1556C>T (p.Ser519Phe) rs886061707
NM_014989.5(RIMS1):c.165-5C>G rs532652925
NM_014989.5(RIMS1):c.169G>C (p.Val57Leu) rs200005095
NM_014989.5(RIMS1):c.1704T>C (p.Asp568=) rs886061708
NM_014989.5(RIMS1):c.1758G>A (p.Thr586=)
NM_014989.5(RIMS1):c.1776G>A (p.Glu592=) rs77121218
NM_014989.5(RIMS1):c.1957+10C>A
NM_014989.5(RIMS1):c.2241+14G>A
NM_014989.5(RIMS1):c.2241T>C (p.Ser747=) rs760492397
NM_014989.5(RIMS1):c.2242-12C>T
NM_014989.5(RIMS1):c.2294A>G (p.Gln765Arg) rs199629596
NM_014989.5(RIMS1):c.2367T>C (p.Asp789=) rs370823273
NM_014989.5(RIMS1):c.2459G>A (p.Arg820His) rs121918302
NM_014989.5(RIMS1):c.2523A>G (p.Glu841=) rs186078277
NM_014989.5(RIMS1):c.2545-4T>C
NM_014989.5(RIMS1):c.2670T>C (p.His890=) rs34821160
NM_014989.5(RIMS1):c.2699-8T>C rs149883454
NM_014989.5(RIMS1):c.2770+2T>C rs1590681805
NM_014989.5(RIMS1):c.2787T>G (p.Ser929Arg)
NM_014989.5(RIMS1):c.2792G>A (p.Arg931Lys) rs776281976
NM_014989.5(RIMS1):c.2827C>G (p.Gln943Glu)
NM_014989.5(RIMS1):c.2865T>C (p.Ser955=)
NM_014989.5(RIMS1):c.2868T>C (p.Pro956=)
NM_014989.5(RIMS1):c.2890A>G (p.Lys964Glu)
NM_014989.5(RIMS1):c.2894C>T (p.Pro965Leu) rs752875047
NM_014989.5(RIMS1):c.2895G>A (p.Pro965=) rs41265493
NM_014989.5(RIMS1):c.2896C>T (p.Arg966Cys)
NM_014989.5(RIMS1):c.28C>T (p.Pro10Ser) rs200935038
NM_014989.5(RIMS1):c.29C>G (p.Pro10Arg)
NM_014989.5(RIMS1):c.3171C>T (p.Ser1057=) rs201355521
NM_014989.5(RIMS1):c.3194+9C>A rs564292772
NM_014989.5(RIMS1):c.3249C>T (p.Ser1083=)
NM_014989.5(RIMS1):c.3279A>G (p.Val1093=)
NM_014989.5(RIMS1):c.3308+12T>G
NM_014989.5(RIMS1):c.3399-4A>G rs368216570
NM_014989.5(RIMS1):c.3430C>T (p.Arg1144Ter)
NM_014989.5(RIMS1):c.3465G>A (p.Ala1155=) rs190562383
NM_014989.5(RIMS1):c.3470C>T (p.Pro1157Leu) rs41265501
NM_014989.5(RIMS1):c.3554+13T>C
NM_014989.5(RIMS1):c.3588C>T (p.His1196=) rs762158019
NM_014989.5(RIMS1):c.3589G>A (p.Ala1197Thr)
NM_014989.5(RIMS1):c.3703G>A (p.Gly1235Arg)
NM_014989.5(RIMS1):c.3758C>T (p.Pro1253Leu)
NM_014989.5(RIMS1):c.3785C>T (p.Ser1262Leu) rs757548948
NM_014989.5(RIMS1):c.3786G>A (p.Ser1262=) rs369147538
NM_014989.5(RIMS1):c.3919G>A (p.Gly1307Arg)
NM_014989.5(RIMS1):c.3921G>T (p.Gly1307=) rs769179703
NM_014989.5(RIMS1):c.3941T>C (p.Leu1314Pro) rs201798320
NM_014989.5(RIMS1):c.39C>G (p.Pro13=)
NM_014989.5(RIMS1):c.4067C>T (p.Ala1356Val)
NM_014989.5(RIMS1):c.4159C>T (p.Arg1387Trp) rs201017334
NM_014989.5(RIMS1):c.4191G>A (p.Lys1397=) rs372513852
NM_014989.5(RIMS1):c.4197C>T (p.Thr1399=) rs201885523
NM_014989.5(RIMS1):c.423G>A (p.Ala141=)
NM_014989.5(RIMS1):c.438C>T (p.Arg146=) rs142196418
NM_014989.5(RIMS1):c.4442T>C (p.Met1481Thr)
NM_014989.5(RIMS1):c.4444G>A (p.Val1482Ile)
NM_014989.5(RIMS1):c.4512A>G (p.Ile1504Met) rs746893761
NM_014989.5(RIMS1):c.4548C>T (p.Phe1516=) rs2815738
NM_014989.5(RIMS1):c.458A>C (p.Asn153Thr)
NM_014989.5(RIMS1):c.459+12A>G
NM_014989.5(RIMS1):c.4599C>T (p.Thr1533=)
NM_014989.5(RIMS1):c.459C>T (p.Asn153=)
NM_014989.5(RIMS1):c.4842A>G (p.Pro1614=) rs376289027
NM_014989.5(RIMS1):c.4860+15G>A rs553488575
NM_014989.5(RIMS1):c.4923C>T (p.Ile1641=) rs144188801
NM_014989.5(RIMS1):c.4945T>A (p.Ser1649Thr)
NM_014989.5(RIMS1):c.4970A>G (p.Lys1657Arg)
NM_014989.5(RIMS1):c.5071C>T (p.Arg1691Ter) rs528476500
NM_014989.5(RIMS1):c.5076A>G (p.Ser1692=) rs61736795
NM_014989.5(RIMS1):c.594A>G (p.Thr198=) rs149442461
NM_014989.5(RIMS1):c.648G>A (p.Ser216=) rs116303981
NM_014989.5(RIMS1):c.666A>G (p.Leu222=) rs2249021
NM_014989.5(RIMS1):c.672A>G (p.Thr224=) rs778273984
NM_014989.5(RIMS1):c.743C>T (p.Ser248Leu) rs116476753
NM_014989.5(RIMS1):c.798A>G (p.Glu266=) rs755868505
NM_014989.5(RIMS1):c.813-14T>G rs180682682
NM_014989.5(RIMS1):c.826G>A (p.Gly276Arg)
NM_014989.5(RIMS1):c.913G>C (p.Val305Leu) rs886061705
NM_014989.5(RIMS1):c.928C>G (p.Arg310Gly) rs758719701
NM_014989.5(RIMS1):c.928C>T (p.Arg310Cys)
NM_014989.5(RIMS1):c.942G>A (p.Arg314=) rs185069362
NM_014989.5(RIMS1):c.954G>C (p.Arg318Ser)

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