ClinVar Miner

List of variants in gene SYNE1 studied for Emery-Dreifuss muscular dystrophy

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Total variants: 13
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HGVS dbSNP
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) rs886061205
NM_182961.4(SYNE1):c.11581-23dup rs5880967
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.21523-15dup rs761577958
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) rs756758310
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) rs766534980
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT rs764324594
NM_182961.4(SYNE1):c.7713-26_7713-20dup rs756232172
NM_182961.4(SYNE1):c.7713-26_7713-21dup rs756232172

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