ClinVar Miner

List of variants studied for myopathy, centronuclear, 2 by Fulgent Genetics, Fulgent 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys)	rs148422103	0.00152
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)	rs146573197	0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)	rs143820618	0.00034
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)	rs794727107	0.00003

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