ClinVar Miner

List of variants in gene SGCB reported as uncertain significance for Qualitative or quantitative defects of beta-sarcoglycan

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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
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.*1553T>A rs550469793 0.00088
NM_000232.5(SGCB):c.*774C>T rs186149099 0.00066
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.*545T>A rs185150054 0.00035
NM_000232.5(SGCB):c.*2166T>C rs192993435 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000232.5(SGCB):c.*2811G>A rs561817001 0.00025
NM_000232.5(SGCB):c.*2970A>G rs777090102 0.00025
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
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.*800A>C rs770412144 0.00005
NM_000232.5(SGCB):c.519G>A (p.Pro173=) rs755701680 0.00005
NM_000232.5(SGCB):c.*1302A>G rs976752494 0.00004
NM_000232.5(SGCB):c.*2387A>T rs1276424882 0.00004
NM_000232.5(SGCB):c.939C>T (p.Pro313=) rs375438506 0.00004
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.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000232.5(SGCB):c.*1513G>A rs1218465400 0.00002
NM_000232.5(SGCB):c.*2423C>G rs1384400878 0.00002
NM_000232.5(SGCB):c.*3136T>C rs937533250 0.00002
NM_000232.5(SGCB):c.*3216A>G rs774980532 0.00002
NM_000232.5(SGCB):c.*401G>A rs1737008818 0.00002
NM_000232.5(SGCB):c.*507A>G rs886059436 0.00002
NM_000232.5(SGCB):c.558T>G (p.Thr186=) rs200167048 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.*1238G>T rs1489663099 0.00001
NM_000232.5(SGCB):c.*175A>G rs886059438 0.00001
NM_000232.5(SGCB):c.*2021A>C rs1237440030 0.00001
NM_000232.5(SGCB):c.*2147C>T rs981695292 0.00001
NM_000232.5(SGCB):c.*2494G>T rs1423436549 0.00001
NM_000232.5(SGCB):c.*265G>A rs565685629 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.*2814A>G rs1046127430 0.00001
NM_000232.5(SGCB):c.*3056T>G rs1578121631 0.00001
NM_000232.5(SGCB):c.*359G>T rs966699007 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.*976T>C rs1189072144 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.*119G>A rs1050318145
NM_000232.5(SGCB):c.*1370A>C rs748673157
NM_000232.5(SGCB):c.*1567G>A rs1736975241
NM_000232.5(SGCB):c.*1648dup rs886059430
NM_000232.5(SGCB):c.*1678C>G rs1456672499
NM_000232.5(SGCB):c.*1722_*1726del rs764828611
NM_000232.5(SGCB):c.*2129del rs767446127
NM_000232.5(SGCB):c.*23A>T rs759376332
NM_000232.5(SGCB):c.*2444G>A rs753761435
NM_000232.5(SGCB):c.*2956_*2960del rs886059425
NM_000232.5(SGCB):c.*3213G>T rs1157646116
NM_000232.5(SGCB):c.*375G>T rs886059437
NM_000232.5(SGCB):c.*827A>G rs1737000618
NM_000232.5(SGCB):c.34-9C>A rs886059439
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.780T>A (p.Ser260=) rs752920764
NM_000232.5(SGCB):c.798C>A (p.Thr266=) rs182784793

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