ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
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Total variants: 11
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HGVS dbSNP
NM_033071.3(SYNE1):c.12371del (p.Lys4124fs) rs886042380
NM_033071.3(SYNE1):c.17002C>T (p.Gln5668Ter)
NM_033071.3(SYNE1):c.18469C>T (p.Gln6157Ter) rs910956017
NM_033071.3(SYNE1):c.23248-1G>A
NM_033071.3(SYNE1):c.24008C>G (p.Ser8003Ter)
NM_033071.3(SYNE1):c.4534G>T (p.Glu1512Ter)
NM_033071.3(SYNE1):c.572T>A (p.Leu191Ter)
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248

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