ClinVar Miner

List of variants reported for Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion by Undiagnosed Diseases Network, NIH

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248

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