ClinVar Miner

List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter) rs762259872 0.00002
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649 0.00001
NC_000001.10:g.(?_235616382)_(235643485_?)del
NC_000001.10:g.(?_235628933)_(235629051_?)del
NC_000001.11:g.(?_235465599)_(235465734_?)del
NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs) rs2102784860
NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer) rs781339765
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter) rs1300792331
NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs) rs1683058752
NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)
NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter) rs1685241606
NM_152490.5(B3GALNT2):c.1368+1G>C rs1479230229
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter) rs760816239
NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter) rs1685730083
NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter) rs2102880436
NM_152490.5(B3GALNT2):c.699del (p.Val234fs) rs1572513308
NM_152490.5(B3GALNT2):c.753del (p.Val252fs) rs2102815215
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs) rs1064793673
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)

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.