ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 14 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (6):

Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to

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_002471.4(MYH6):c.4264C>T (p.Arg1422Trp)	rs200465713	0.00010
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly)	rs930701630	0.00002
NM_002471.4(MYH6):c.49C>T (p.Arg17Cys)	rs1131691313	0.00001

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