ClinVar Miner

List of variants studied for autosomal recessive centronuclear myopathy by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (5):

Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure

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_005876.5(SPEG):c.2827A>C (p.Lys943Gln)
NM_005876.5(SPEG):c.5428C>T (p.Arg1810Ter)
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)	rs201170917
NM_005876.5(SPEG):c.8234G>T (p.Arg2745Met)

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