ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2H by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.370C>T (p.Arg124Trp) rs572052810 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.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.1573G>T (p.Gly525Cys) rs1861055421
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

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.