ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NC_000006.12:g.(?_152122416)_(153426916_?)del
NM_033071.3(SYNE1):c.12371delA (p.Lys4124Argfs) rs886042380
NM_033071.3(SYNE1):c.1240_1241delCT (p.Leu414Serfs)
NM_033071.3(SYNE1):c.15705-12A>G rs606231134
NM_033071.3(SYNE1):c.17002C>T (p.Gln5668Ter)
NM_033071.3(SYNE1):c.22807-1G>A rs1554544827
NM_033071.3(SYNE1):c.24071G>A (p.Arg8024His) rs119103246
NM_033071.3(SYNE1):c.25237G>A (p.Glu8413Lys) rs119103248

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