ClinVar Miner

List of variants in gene COL6A1 reported by OMIM

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Total variants: 14
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NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.2(COL6A1):c.1056+2T>C rs797044456
NM_001848.2(COL6A1):c.1465del (p.Ala489fs) rs797044458
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter) rs121912937
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.428+1G>A rs1569517717
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.857del (p.Pro286fs) rs797044457
NM_001848.2(COL6A1):c.868G>C (p.Gly290Arg) rs121912939

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