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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 142

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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.1-3C>T	rs373335254	0.00005
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.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)_(23894909_?)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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