RS104895360 MVK

Health Risk Chr 12:109596547 snv stop gained
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3
disseminated superficial actinic type
MVK-related disorder
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3
disseminated superficial actinic type
MVK-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in MVK
rs121917789 rs28934897 rs104895317 rs104895295 rs104895304 rs121917790 rs104895319 rs104895334 rs397514570 rs104895300
Ask Dr. Hemsworth about this variant