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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Total variants: 23
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HGVS dbSNP
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.14644C>T (p.Arg4882Ter) rs375077588
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
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) rs757744079
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)

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