ClinVar Miner

List of variants reported as pathogenic for Bethlem myopathy by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
COL6A3, IVS15DS, GT-TC, +1
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.2(COL6A1):c.1056+2T>C rs797044456
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.428+1G>A rs1569517717
NM_001848.2(COL6A1):c.931-1G>A
NM_001849.3(COL6A2):c.1000-2A>G rs1555873356
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.5177T>G (p.Leu1726Arg) rs121434555
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094

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