ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000021.8:g.(?_47408978)_(47409071_?)del
NM_001848.2(COL6A1):c.1003-1G>T
NM_001848.2(COL6A1):c.1003-2A>C
NM_001848.2(COL6A1):c.1003-2delA rs1556425835
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.2(COL6A1):c.1056+2T>C rs797044456
NM_001848.2(COL6A1):c.148del (p.Ala49_Leu50insTer) rs1556423728
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.2(COL6A1):c.2431_2434+36del rs759918870
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.428+1G>A rs1569517717
NM_001848.2(COL6A1):c.58C>T (p.Gln20Ter)
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg)
NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp) rs1556425467
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp) rs121912939
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.887G>T (p.Gly296Val)
NM_001848.2(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.2(COL6A1):c.930+189C>T rs1556425596
NM_001848.2(COL6A1):c.931-1G>A
NM_001848.2(COL6A1):c.931-1G>C rs886042354

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