List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)	rs369292604	0.00017
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)	rs139075013	0.00005
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)	rs549779256	0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)	rs199708211	0.00001
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)	rs1554451078
NM_182961.4(SYNE1):c.23461-1G>A	rs1586909309

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