ClinVar Miner

List of variants reported as likely pathogenic for Bethlem myopathy by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NC_000002.12:g.(?_237358501)_(237361194_?)del
NM_001848.2(COL6A1):c.1398+2T>G
NM_001848.2(COL6A1):c.1576-1G>A
NM_001848.2(COL6A1):c.1823-1G>T
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val)
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg)
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.2(COL6A1):c.846_854delAGCCGGAGA (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-2A>G rs1556425717
NM_001849.3(COL6A2):c.1000-13_1030delCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT rs1555873353
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.839G>A (p.Gly280Asp)
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.955-3_955-1delinsAA
NM_004369.3(COL6A3):c.1897+1G>T
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6310-2A>G
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004370.5(COL12A1):c.395-2A>C
NM_004370.5(COL12A1):c.5230+1G>A

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