ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NC_000021.8:g.(?_47405667)_(47407547_?)del
NC_000021.8:g.(?_47407419)_(47408291_?)del
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.1657G>A (p.Gly553Arg) rs2077822326
NM_001848.3(COL6A1):c.1674+1G>A rs2123484131
NM_001848.3(COL6A1):c.1784del (p.Glu595fs)
NM_001848.3(COL6A1):c.1823-1G>T rs1569519030
NM_001848.3(COL6A1):c.2066+2T>C rs2077849329
NM_001848.3(COL6A1):c.211dup (p.Asp71fs)
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>C
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.842G>A (p.Gly281Glu) rs886041383
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.868G>A (p.Gly290Arg) rs121912939
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.928_930+9del
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.958-2A>G rs1556425717
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

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