ClinVar Miner

List of variants in gene ASTN2, TRIM32 studied for Sarcotubular myopathy

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.*129C>T rs3019 0.93964
NM_012210.4(TRIM32):c.*1206T>C rs2281627 0.28741
NM_012210.4(TRIM32):c.-133G>C rs12342207 0.27173
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_012210.4(TRIM32):c.*589G>A rs16933835 0.01666
NM_012210.4(TRIM32):c.*845C>T rs111309723 0.01665
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_012210.4(TRIM32):c.*1077C>T rs41266677 0.00314
NM_012210.4(TRIM32):c.*1152A>G rs557939030 0.00190
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_012210.4(TRIM32):c.*512A>T rs144172952 0.00160
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_012210.4(TRIM32):c.*84A>C rs571526516 0.00068
NM_012210.4(TRIM32):c.*229C>T rs770788386 0.00065
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_012210.4(TRIM32):c.-109T>C rs886063378 0.00049
NM_012210.4(TRIM32):c.-124G>A rs752864284 0.00040
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_012210.4(TRIM32):c.*177C>T rs149956877 0.00032
NM_012210.4(TRIM32):c.*1350A>C rs1055184514 0.00019
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_012210.4(TRIM32):c.*1416A>G rs572710748 0.00013
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_012210.4(TRIM32):c.*1354C>A rs763188009 0.00010
NM_012210.4(TRIM32):c.*1246T>C rs573622329 0.00008
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_012210.4(TRIM32):c.*1424C>G rs886473067 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr) rs886063379 0.00003
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys) rs780867714 0.00003
NM_012210.4(TRIM32):c.*530C>T rs192837427 0.00002
NM_012210.4(TRIM32):c.*935A>G rs886063384 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln) rs199704873 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln) rs766439806 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_012210.4(TRIM32):c.*112G>A rs886063380 0.00001
NM_012210.4(TRIM32):c.*283G>T rs886063381 0.00001
NM_012210.4(TRIM32):c.*676G>T rs541032542 0.00001
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val) rs746383181 0.00001
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=) rs200244154 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.1432T>G (p.Leu478Val) rs371002754 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012210.4(TRIM32):c.*1060T>C rs886063385
NM_012210.4(TRIM32):c.*1074A>T rs1861131414
NM_012210.4(TRIM32):c.*1207A>G rs886063386
NM_012210.4(TRIM32):c.*1254C>A rs1861140982
NM_012210.4(TRIM32):c.*1490A>C rs886063388
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.*206A>G rs567913198
NM_012210.4(TRIM32):c.*250G>C rs1861092175
NM_012210.4(TRIM32):c.*312G>C rs1434937610
NM_012210.4(TRIM32):c.*371T>C rs866692844
NM_012210.4(TRIM32):c.*464C>G rs1861100376
NM_012210.4(TRIM32):c.*479G>T rs543534409
NM_012210.4(TRIM32):c.*737T>C rs549857802
NM_012210.4(TRIM32):c.*866A>C rs886063383
NM_012210.4(TRIM32):c.-143C>T rs1860294388
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter) rs747266069
NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys) rs1861055421
NM_012210.4(TRIM32):c.1603del (p.Leu535fs) rs2132075382
NM_012210.4(TRIM32):c.317G>A (p.Arg106His) rs760730435
NM_012210.4(TRIM32):c.621A>G (p.Thr207=) rs1206247561
NM_012210.4(TRIM32):c.660G>C (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402
NM_012210.4(TRIM32):c.821C>G (p.Thr274Ser) rs1861005429
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412

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