ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 12
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NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
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) rs1568928804
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.955-3_955-1delinsAA rs1568929639

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