ClinVar Miner

List of variants in gene COL6A2 reported as pathogenic for Ullrich congenital muscular dystrophy 1, autosomal dominant

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Total variants: 2
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COL6A2, 1.3-KB DEL
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748

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