ClinVar Miner

List of variants studied for myopathy, centronuclear, 2 by Baylor Genetics

Included ClinVar conditions (2):

Myopathy, centronuclear, 2
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: 3

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HGVS	dbSNP	gnomAD frequency
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val)	rs771368114	0.00002
NM_139343.3(BIN1):c.1696G>A (p.Val566Met)	rs761759946	0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu)	rs776075897	0.00001

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