ClinVar Miner

List of variants in gene RIMS1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
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.*1690G>A rs773379819 0.00059
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.3588C>T (p.His1196=) rs762158019 0.00009
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.*44G>A rs762926493 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.*2132A>G rs985097971 0.00004
NM_014989.7(RIMS1):c.*453G>C rs555043314 0.00004
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu) rs757548948 0.00004
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala) rs373553229 0.00004
NM_014989.7(RIMS1):c.*542A>T rs774599192 0.00003
NM_014989.7(RIMS1):c.*1705C>T rs886061722 0.00002
NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala) rs996767502 0.00002
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala) rs886061709 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.*538C>T rs886061713 0.00001
NM_014989.7(RIMS1):c.*545C>A rs886061714 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.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.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.459C>T (p.Asn153=) rs1238525429 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.*1457dup rs886061718
NM_014989.7(RIMS1):c.*189A>T rs1409375849
NM_014989.7(RIMS1):c.*2357C>G rs2098844396
NM_014989.7(RIMS1):c.*517dup rs201958591
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.1382C>T (p.Ala461Val) rs886061706
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.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.4444G>A (p.Val1482Ile) rs2098688415
NM_014989.7(RIMS1):c.4618+20dup rs113359739
NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg) rs2098829238
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.954G>C (p.Arg318Ser) rs2048521720

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