ClinVar Miner

List of variants studied for X-linked Emery-Dreifuss muscular dystrophy by Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.449+1G>A rs2148128756
NM_000117.3(EMD):c.631del (p.Arg211fs) rs2148128957

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