ClinVar Miner

List of variants reported as likely pathogenic for congenital muscular dystrophy by Mendelics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000002.11:g.238258810delG rs794729205
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094

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.