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: 13
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(153748051_?)del
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.23461-1G>A
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)

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