ClinVar Miner

List of variants in gene COL6A2 reported as pathogenic by Invitae

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Total variants: 15
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NM_001849.3(COL6A2):c.1059delC (p.Asp354Thrfs) rs1555873508
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.1294A>T (p.Lys432Ter)
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter)
NM_001849.3(COL6A2):c.1459-2A>G rs749974929
NM_001849.3(COL6A2):c.1751delC (p.Pro584Leufs) rs886044398
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.3(COL6A2):c.641_645delACGAC (p.Asn214Ilefs) rs1375040481
NM_001849.3(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) rs794727855

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