List of variants reported as pathogenic for Emery-Dreifuss muscular dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_182961.4(SYNE1):c.15918-12A>G	rs606231134	0.00004
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)	rs886039030	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	rs121913630	0.00002
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	rs121913637	0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	rs397516161	0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	rs267606908	0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	rs267607555	0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	rs57920071	0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	rs11575937	0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	rs119103243	0.00001
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	rs121913624
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	rs397516127
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	rs397516171
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)	rs1191211949
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	rs61672878
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	rs267607618
NM_170707.4(LMNA):c.1608+1G>A	rs267607592
NM_170707.4(LMNA):c.5del (p.Glu2fs)
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	rs267607554
NM_182961.4(SYNE1):c.16390-2A>G	rs759460806

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