List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.13089A>T (p.Gln4363His)	rs753852037	0.00001
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)	rs761121679	0.00001
NM_182961.4(SYNE1):c.11342G>A (p.Gly3781Asp)
NM_182961.4(SYNE1):c.12476G>T (p.Arg4159Met)
NM_182961.4(SYNE1):c.1747G>T (p.Val583Leu)
NM_182961.4(SYNE1):c.2311C>T (p.His771Tyr)
NM_182961.4(SYNE1):c.8233T>A (p.Leu2745Met)
NM_182961.4(SYNE1):c.8468A>T (p.Asp2823Val)	rs545685387

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