ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
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.832G>A (p.Gly278Ser) rs147820869 0.00049
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.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.438C>T (p.Asp146=) rs144497243 0.00014
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.506-7T>G rs774582375 0.00009
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 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.414A>G (p.Gln138=) rs770596449 0.00005
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.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.479T>C (p.Val160Ala) rs527562042 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.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.346C>T (p.Arg116Cys) rs191040430 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000231.3(SGCG):c.501A>T (p.Val167=) rs560640452 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.615C>A (p.Ala205=) rs142409090 0.00001
NM_000231.3(SGCG):c.625G>T (p.Val209Leu) rs563129062 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.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.217G>A (p.Val73Ile) rs763619480
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.386-2A>C rs886042757
NM_000231.3(SGCG):c.438C>A (p.Asp146Glu) rs144497243
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys) rs770939408
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
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.57G>T (p.Glu19Asp) rs752669226
NM_000231.3(SGCG):c.607A>G (p.Met203Val) rs1883002488
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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.