RS111729952 MYBPC3
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What This Variant Does
"The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hy...
Associated Conditions
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Population Frequencies
gnomAD ALL
100%
Other Variants in MYBPC3