ClinVar Miner

List of variants in gene SGCB studied for Limb-Girdle Muscular Dystrophy, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.*2097T>G rs170424 0.57555
NM_000232.5(SGCB):c.*1624C>T rs225163 0.43578
NM_000232.5(SGCB):c.*1566T>C rs13989 0.43564
NM_000232.5(SGCB):c.*521A>T rs225165 0.43151
NM_000232.5(SGCB):c.*1105A>G rs77404139 0.01061
NM_000232.5(SGCB):c.*724C>T rs79282232 0.00971
NM_000232.5(SGCB):c.*2286T>A rs116538326 0.00686
NM_000232.5(SGCB):c.*2907T>C rs138349341 0.00486
NM_000232.5(SGCB):c.*1113G>A rs76630071 0.00473
NM_000232.4(SGCB):c.*3258G>C rs182133472 0.00332
NM_000232.5(SGCB):c.*2984G>A rs574951031 0.00159
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.*2166T>C rs192993435 0.00029
NM_000232.5(SGCB):c.*2811G>A rs561817001 0.00025
NM_000232.5(SGCB):c.*1125T>A rs146235069 0.00017
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.*1127A>G rs886059432 0.00011
NM_000232.5(SGCB):c.*1115G>T rs866935393 0.00006
NM_000232.5(SGCB):c.*1135C>G rs886059431 0.00003
NM_000232.5(SGCB):c.*2351C>T rs886059428 0.00003
NM_000232.5(SGCB):c.*2580C>T rs886059427 0.00003
NM_000232.5(SGCB):c.*3216A>G rs774980532 0.00002
NM_000232.5(SGCB):c.*507A>G rs886059436 0.00002
NM_000232.5(SGCB):c.*1002G>A rs543319107 0.00001
NM_000232.5(SGCB):c.*1118G>T rs886059433 0.00001
NM_000232.5(SGCB):c.*175A>G rs886059438 0.00001
NM_000232.5(SGCB):c.*2707T>C rs574973588 0.00001
NM_000232.5(SGCB):c.*2764G>A rs886059426 0.00001
NM_000232.5(SGCB):c.*669T>G rs886059435 0.00001
NM_000232.5(SGCB):c.*847T>C rs886059434 0.00001
NM_000232.5(SGCB):c.*1648dup rs886059430
NM_000232.5(SGCB):c.*1722_*1726del rs764828611
NM_000232.5(SGCB):c.*1959TTTA[1] rs147275302
NM_000232.5(SGCB):c.*2129del rs767446127
NM_000232.5(SGCB):c.*23A>T rs759376332
NM_000232.5(SGCB):c.*2956_*2960del rs886059425
NM_000232.5(SGCB):c.*375G>T rs886059437
NM_000232.5(SGCB):c.34-9C>A rs886059439
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.798C>A (p.Thr266=) rs182784793

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.