ClinVar Miner

List of variants in gene COL6A3 reported as pathogenic for Ullrich congenital muscular dystrophy 1

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Total variants: 5
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HGVS dbSNP
COL6A3, IVS29, A-G, +5
NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6309+1G>T rs886043919

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