ClinVar Miner

List of variants studied for X-linked Emery-Dreifuss muscular dystrophy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):

Emery-Dreifuss muscular dystrophy 1, X-linked
Emery-Dreifuss muscular dystrophy 6
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy
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
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; X-linked scapuloperoneal muscular dystrophy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)	rs2522789891
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)	rs1569530588
NM_001159699.2(FHL1):c.786C>G (p.His262Gln)

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