ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_004369.3(COL6A3):c.1897+1G>T rs1230578718
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6283-2A>C rs797044988
NM_004369.3(COL6A3):c.6310-2A>G rs1559225993
NM_004369.3(COL6A3):c.6320_6322del (p.Gly2107del) rs1559225974
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.3(COL6A3):c.7669-2del rs764193290
NM_057166.5(COL6A3):c.4489-28_4504del rs1553553267

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