ClinVar Miner

List of variants reported as pathogenic for inherited rippling muscle disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (3):

Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type
Rippling muscle disease 2
Rippling muscle disease 2; Distal myopathy, Tateyama type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	rs116840778	0.00001
NC_000003.11:g.(?_8775485)_(8788452_?)del
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	rs28936686

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