List of variants in gene combination LOC129997480, SYNE1 reported as likely benign for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)	rs17082422	0.01643
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=)	rs754642929	0.00008
NM_182961.4(SYNE1):c.17347-6C>T	rs201692248	0.00007
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=)	rs769954729	0.00003
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)	rs753335678	0.00002
NM_182961.4(SYNE1):c.17347-16G>C	rs200637611	0.00001
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=)	rs963252462	0.00001
NM_182961.4(SYNE1):c.17347-5C>T	rs886043152
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)	rs150376715
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=)	rs754642929
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=)	rs775771199
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=)	rs775771199
NM_182961.4(SYNE1):c.17541+12G>T
NM_182961.4(SYNE1):c.17541+13_17541+15del
NM_182961.4(SYNE1):c.17541+17T>A

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