ClinVar Miner

List of variants studied for cardiomyopathy, familial restrictive, 1 by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

Included ClinVar conditions (5):

Cardiomyopathy, familial restrictive, 1
Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7

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_000258.3(MYL3):c.461G>A (p.Arg154His)	rs104893749	0.00002
NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr)	rs1114167340
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)	rs1114167341

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