ClinVar Miner

List of variants in gene COL6A1 reported as pathogenic for Ullrich congenital muscular dystrophy 1

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Total variants: 4
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HGVS dbSNP
NM_001848.2(COL6A1):c.1465del (p.Ala489fs) rs797044458
NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter) rs121912937
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.2(COL6A1):c.857del (p.Pro286fs) rs797044457

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