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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)	rs150905950	0.00059
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)	rs185829704	0.00015
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=)	rs886061205
NM_182961.4(SYNE1):c.11581-15dup	rs5880967
NM_182961.4(SYNE1):c.17203-7_17203-6del	rs55633181
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.7713-12_7713-11delinsTTTTTTTCT	rs764324594
NM_182961.4(SYNE1):c.7713-18_7713-13dup	rs756232172
NM_182961.4(SYNE1):c.7713-19_7713-13dup	rs756232172

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