ClinVar Miner

List of variants in gene COL6A1 reported as pathogenic by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.2(COL6A1):c.815G>A (p.Gly272Asp) rs1064793840
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.2(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.2(COL6A1):c.957G>T (p.Lys319Asn) rs1057520625

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