ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000231.3(SGCG):c.*53C>A rs188804783 0.00050
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00039
NM_000231.3(SGCG):c.8G>A (p.Arg3His) rs35105771 0.00031
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys) rs148404730 0.00027
NM_000231.3(SGCG):c.196-3C>T rs765273430 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00009
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile) rs201329880 0.00008
NM_000231.3(SGCG):c.792C>G (p.Ile264Met) rs377620885 0.00007
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 0.00006
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser) rs747046381 0.00006
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe) rs368524463 0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val) rs372188878 0.00004
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) rs569816696 0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met) rs139072866 0.00002
NM_000231.3(SGCG):c.623G>T (p.Gly208Val) rs778119056 0.00002
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00001
NM_000231.3(SGCG):c.34G>A (p.Gly12Ser) rs761027747 0.00001
NM_000231.3(SGCG):c.352T>C (p.Ser118Pro) rs766126721 0.00001
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg) rs544414698 0.00001
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp) rs767605031 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp) rs748255972 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.195+3A>T
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
NM_000231.3(SGCG):c.229G>A (p.Gly77Arg)
NM_000231.3(SGCG):c.256T>G (p.Phe86Val)
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp) rs886044395
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser) rs1451332880
NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr) rs886042216
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter) rs768134426
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu) rs753806016
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
NM_000231.3(SGCG):c.684del (p.His229fs) rs2137528312
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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