ClinVar Miner

List of variants in gene RIMS1 reported as uncertain significance for Cone-rod dystrophy 7

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Total variants: 66
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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.*1134C>T
NM_014989.5(RIMS1):c.*1230A>C
NM_014989.5(RIMS1):c.*1280G>A
NM_014989.5(RIMS1):c.*1355C>T rs886061716
NM_014989.5(RIMS1):c.*1446A>G rs886061719
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.*202G>C
NM_014989.5(RIMS1):c.*2132A>G
NM_014989.5(RIMS1):c.*2357C>G
NM_014989.5(RIMS1):c.*2386T>G rs886061723
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.*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.-181G>A rs886061704
NM_014989.5(RIMS1):c.-249C>G rs868415047
NM_014989.5(RIMS1):c.1088G>T (p.Arg363Leu)
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.1386G>A (p.Pro462=)
NM_014989.5(RIMS1):c.1556C>T (p.Ser519Phe) rs886061707
NM_014989.5(RIMS1):c.1704T>C (p.Asp568=) rs886061708
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.2545-4T>C
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.2896C>T (p.Arg966Cys)
NM_014989.5(RIMS1):c.29C>G (p.Pro10Arg)
NM_014989.5(RIMS1):c.3249C>T (p.Ser1083=)
NM_014989.5(RIMS1):c.3279A>G (p.Val1093=)
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.3785C>T (p.Ser1262Leu) rs757548948
NM_014989.5(RIMS1):c.3919G>A (p.Gly1307Arg)
NM_014989.5(RIMS1):c.4067C>T (p.Ala1356Val)
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.459C>T (p.Asn153=)
NM_014989.5(RIMS1):c.4970A>G (p.Lys1657Arg)
NM_014989.5(RIMS1):c.5071C>T (p.Arg1691Ter) rs528476500
NM_014989.5(RIMS1):c.672A>G (p.Thr224=) rs778273984
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.954G>C (p.Arg318Ser)

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