ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2C

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
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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.58A>G (p.Asn20Asp) rs763248287 0.00058
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.716C>T (p.Ala239Val) rs149086397 0.00036
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.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.722C>T (p.Thr241Ile) rs1265119318 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.506-7T>G rs774582375 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.436G>A (p.Asp146Asn) rs373442790 0.00006
NM_000231.3(SGCG):c.101G>A (p.Arg34His) rs755404457 0.00005
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00005
NM_000231.3(SGCG):c.505+6T>C rs372684728 0.00005
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe) rs780747031 0.00005
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe) rs368524463 0.00004
NM_000231.3(SGCG):c.371G>T (p.Gly124Val) rs183204936 0.00004
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser) rs374836520 0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val) rs372188878 0.00004
NM_000231.3(SGCG):c.784T>C (p.Tyr262His) rs776357413 0.00004
NM_000231.3(SGCG):c.808G>A (p.Gly270Arg) rs767191084 0.00004
NM_000231.3(SGCG):c.1-3C>T rs373335254 0.00003
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu) rs752603127 0.00003
NM_000231.3(SGCG):c.-126C>A rs1411409870 0.00002
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.100C>T (p.Arg34Cys) rs747549369 0.00001
NM_000231.3(SGCG):c.137T>G (p.Ile46Ser) rs1019389043 0.00001
NM_000231.3(SGCG):c.190T>C (p.Ser64Pro) rs886042587 0.00001
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala) rs771657671 0.00001
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.326A>G (p.Gln109Arg) rs201514102 0.00001
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys) rs191040430 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.505+3A>G rs1881219940 0.00001
NM_000231.3(SGCG):c.547C>T (p.Leu183Phe) rs1425113474 0.00001
NM_000231.3(SGCG):c.625G>T (p.Val209Leu) rs563129062 0.00001
NM_000231.3(SGCG):c.629A>G (p.His210Arg) rs1045567625 0.00001
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe) rs763780768 0.00001
NM_000231.3(SGCG):c.706G>A (p.Val236Met) rs201788230 0.00001
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr) rs886043151 0.00001
NM_000231.3(SGCG):c.781C>G (p.Leu261Val) rs1460327315 0.00001
NM_000231.3(SGCG):c.7C>T (p.Arg3Cys) rs140310896 0.00001
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp) rs748255972 0.00001
NC_000013.10:g.(?_23667335)_(23778038_?)dup
NC_000013.10:g.(?_23667335)_(23869646_?)dup
NC_000013.10:g.(?_23667335)_(23894909_?)dup
NC_000013.10:g.(?_23667335)_(23985388_?)dup
NC_000013.10:g.(?_23777834)_(23985378_?)dup
NC_000013.10:g.(?_23894756)_(23985378_?)dup
NM_000231.2(SGCG):c.[800G>C;801T>C]
NM_000231.3(SGCG):c.*474AAGT[3] rs886050066
NM_000231.3(SGCG):c.*571_*576del rs886050067
NM_000231.3(SGCG):c.-1+5G>A
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.117T>G (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000231.3(SGCG):c.142G>C (p.Val48Leu) rs369936288
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.161C>A (p.Thr54Lys) rs886043940
NM_000231.3(SGCG):c.172C>A (p.Leu58Ile) rs752310028
NM_000231.3(SGCG):c.183G>A (p.Met61Ile) rs1288398934
NM_000231.3(SGCG):c.195+3A>G
NM_000231.3(SGCG):c.195+3A>T
NM_000231.3(SGCG):c.195+5G>A
NM_000231.3(SGCG):c.199G>A (p.Gly67Arg) rs1879239201
NM_000231.3(SGCG):c.217G>A (p.Val73Ile) rs763619480
NM_000231.3(SGCG):c.223A>G (p.Lys75Glu) rs2137545079
NM_000231.3(SGCG):c.229G>A (p.Gly77Arg)
NM_000231.3(SGCG):c.250T>A (p.Ser84Thr) rs1566011041
NM_000231.3(SGCG):c.256T>G (p.Phe86Val)
NM_000231.3(SGCG):c.274G>A (p.Ala92Thr) rs1566011069
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp) rs886044395
NM_000231.3(SGCG):c.284T>G (p.Ile95Arg)
NM_000231.3(SGCG):c.310C>A (p.Leu104Ile)
NM_000231.3(SGCG):c.317A>C (p.Gln106Pro) rs2137569326
NM_000231.3(SGCG):c.344C>A (p.Ala115Glu) rs774245371
NM_000231.3(SGCG):c.374G>A (p.Arg125Lys) rs2137569487
NM_000231.3(SGCG):c.379A>C (p.Lys127Gln)
NM_000231.3(SGCG):c.381A>G (p.Lys127=)
NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)
NM_000231.3(SGCG):c.386-9A>G
NM_000231.3(SGCG):c.386G>T (p.Gly129Val) rs866412938
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser) rs1451332880
NM_000231.3(SGCG):c.435C>A (p.Asn145Lys)
NM_000231.3(SGCG):c.438C>A (p.Asp146Glu) rs144497243
NM_000231.3(SGCG):c.44T>C (p.Ile15Thr) rs1877863268
NM_000231.3(SGCG):c.455C>A (p.Thr152Asn) rs201329880
NM_000231.3(SGCG):c.45A>G (p.Ile15Met) rs2137501268
NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)
NM_000231.3(SGCG):c.46G>C (p.Glu16Gln)
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys) rs770939408
NM_000231.3(SGCG):c.494T>C (p.Leu165Pro) rs2137617769
NM_000231.3(SGCG):c.504T>C (p.Thr168=) rs2137617795
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr) rs886042216
NM_000231.3(SGCG):c.529C>T (p.His177Tyr) rs375592456
NM_000231.3(SGCG):c.551T>G (p.Val184Gly) rs1593095374
NM_000231.3(SGCG):c.559G>A (p.Asp187Asn) rs886042075
NM_000231.3(SGCG):c.560A>G (p.Asp187Gly) rs2137644813
NM_000231.3(SGCG):c.563C>G (p.Pro188Arg)
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.579-3C>T
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp) rs752669226
NM_000231.3(SGCG):c.595C>T (p.Arg199Trp)
NM_000231.3(SGCG):c.5T>C (p.Val2Ala)
NM_000231.3(SGCG):c.605G>C (p.Ser202Thr)
NM_000231.3(SGCG):c.607A>G (p.Met203Val) rs1883002488
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe) rs1883002814
NM_000231.3(SGCG):c.619A>G (p.Arg207Gly) rs1883003177
NM_000231.3(SGCG):c.636A>G (p.Gln212=) rs794727841
NM_000231.3(SGCG):c.643G>T (p.Ala215Ser)
NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
NM_000231.3(SGCG):c.662T>C (p.Leu221Pro) rs1883006449
NM_000231.3(SGCG):c.672G>T (p.Met224Ile) rs866525494
NM_000231.3(SGCG):c.703-1G>A
NM_000231.3(SGCG):c.703-1G>C rs1883152345
NM_000231.3(SGCG):c.705_706inv (p.Val236Met)
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del) rs1555248287
NM_000231.3(SGCG):c.740T>C (p.Leu247Pro) rs2137534069
NM_000231.3(SGCG):c.743T>C (p.Val248Ala)
NM_000231.3(SGCG):c.757G>A (p.Gly253Ser)
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)
NM_000231.3(SGCG):c.796G>T (p.Val266Leu) rs1555248300
NM_000231.3(SGCG):c.800_801delinsCC (p.Cys267Ser)
NM_000231.3(SGCG):c.815T>G (p.Leu272Arg)
NM_000231.3(SGCG):c.817T>A (p.Tyr273Asn) rs1883158469
NM_000231.3(SGCG):c.82A>C (p.Ile28Leu)
NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)

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