ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 14 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.1328G>A (p.Arg443His)	rs202096001	0.00006
NM_002471.4(MYH6):c.343T>C (p.Tyr115His)
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)	rs878854502

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