ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501

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