ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 15
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NM_001849.3(COL6A2):c.1037_1038delGAinsTT (p.Gly346Val)
NM_001849.3(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1770+1delG rs886044215
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.3(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
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.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.3(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.3(COL6A2):c.866G>T (p.Gly289Val)
NM_001849.3(COL6A2):c.893G>C (p.Gly298Ala)
NM_001849.3(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.3(COL6A2):c.955-1G>A rs886044265

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