ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (35):

Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Autosomal recessive myogenic arthrogryposis multiplex congenita
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Laminopathy; Restrictive dermopathy 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Emery-Dreifuss muscular dystrophy 6
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; MYH7-related skeletal myopathy
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy
Myosin storage myopathy
Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Left ventricular noncompaction
Scapuloperoneal myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
X-linked scapuloperoneal muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	rs397516201	0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	rs57830985	0.00001
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_182961.4(SYNE1):c.15438+2T>C
NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)
NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)

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