ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy 1A by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr) rs201322581 0.00003
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NM_001849.4(COL6A2):c.928-2A>G rs1440070681

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