ClinVar Miner

List of variants in gene COL6A1 reported as likely pathogenic for Bethlem myopathy 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NC_000021.8:g.(?_47407419)_(47408291_?)del
NM_001848.3(COL6A1):c.1027_1056+76del rs2123473096
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1056+4A>G rs886043433
NM_001848.3(COL6A1):c.1056+5G>T rs886044511
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu) rs2077774072
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
NM_001848.3(COL6A1):c.1335+2_1335+3del
NM_001848.3(COL6A1):c.1398+2T>G rs1569518481
NM_001848.3(COL6A1):c.1524+1G>A
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.1576-1G>A rs112814811
NM_001848.3(COL6A1):c.1576-2A>G
NM_001848.3(COL6A1):c.1576-2_1576-1del rs1569518725
NM_001848.3(COL6A1):c.1674+1G>A rs2123484131
NM_001848.3(COL6A1):c.1823-1G>T rs1569519030
NM_001848.3(COL6A1):c.2066+2T>C rs2077849329
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs) rs2123490954
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.738+1G>T rs2077744287
NM_001848.3(COL6A1):c.748_805-704del
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val) rs886043351
NM_001848.3(COL6A1):c.805-2A>T rs398123639
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.3(COL6A1):c.842_858+7del rs2077759485
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.3(COL6A1):c.859-1G>C rs1556425531
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg) rs1469287281
NM_001848.3(COL6A1):c.928_930+23del
NM_001848.3(COL6A1):c.930+1G>T rs886042902
NM_001848.3(COL6A1):c.957+6C>G rs374926748
NM_001848.3(COL6A1):c.957_957+7del rs1556425687
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del) rs2123472068
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001848.3:c.19dup

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.