ClinVar Miner

List of variants reported as likely pathogenic for Limb-girdle muscular dystrophy, type 2D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000023.3(SGCA):c.313_319del (p.Val105Profs) rs1555568509
NM_000023.4(SGCA):c.-1_9del (p.Met1fs) rs1057517107
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349
NM_000023.4(SGCA):c.220del (p.Arg74fs) rs1555568325
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly) rs1555568396
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.4(SGCA):c.313-2A>G rs1057516650
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.480_481del (p.Leu161fs) rs1057517142
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) rs1057516242
NM_000023.4(SGCA):c.559del (p.Leu187fs) rs1057516888
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter) rs1057516664
NM_000023.4(SGCA):c.584+1del rs1555568876
NM_000023.4(SGCA):c.585-2A>C rs1555568965
NM_000023.4(SGCA):c.585-2A>T rs1555568965
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.748-2A>T rs1412537279
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs) rs1057516548
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) rs1057516729
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.4(SGCA):c.86A>T (p.His29Leu) rs1387802849
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter) rs1555569339
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342

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.