List of variants in gene combination LOC126859836, SYNE1 reported as uncertain significance 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)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)	rs778441411	0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)	rs377449974	0.00004
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr)	rs1257118792	0.00001
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val)	rs763768133	0.00001
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys)	rs780059512
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr)	rs794727041

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