RS111683277 MYBPC3

Health Risk Chr 11:47333555 snv splice donor variant
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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
Hypertrophic cardiomyopathy 4
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Left ventricular noncompaction 10
Cardiomyopathy
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 4
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Left ventricular noncompaction 10
Cardiomyopathy
Hypertrophic cardiomyopathy
Population Frequencies
gnomAD ALL
0%
Other Variants in MYBPC3
rs373746463 rs193922384 rs121909378 rs121909374 rs886041030 rs886041031 rs121909375 rs121909377 rs2856655 rs587776700
Ask Dr. Hemsworth about this variant