ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg) rs371601285 0.00002
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs) rs2154198510
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter) rs1561254509
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001927.4(DES):c.735+1G>A rs397516698
NM_003051.4(SLC16A1):c.747_750del (p.Asn250fs) rs606231311
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro) rs2143530610
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs) rs2122349615
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter) rs2122268166

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.