ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_033071.3(SYNE1):c.23248-1G>A
NM_033071.3(SYNE1):c.4520T>A (p.Ile1507Asn) rs746438011
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211

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