ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_001849.3(COL6A2):c.1117-35_1118dup rs1555873698
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1461delA (p.Ser488Leufs) rs398123645
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.3(COL6A2):c.2038_2039delCGinsA (p.Arg680Ilefs) rs1064795685
NM_001849.3(COL6A2):c.2539_2540dupCA (p.Gln847Hisfs) rs1413628703
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.94G>T (p.Glu32Ter) rs547648292

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