ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001

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