RS104895362 MVK

Health Risk Chr 12:109595181 snv splice donor variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Porokeratosis 3
disseminated superficial actinic type
Mevalonic aciduria
Porokeratosis 3
disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Deficiency of mevalonate kinase
Porokeratosis 3
disseminated superficial actinic type
Mevalonic aciduria
Porokeratosis 3
disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Deficiency of mevalonate kinase
Population Frequencies
gnomAD ALL
0%
Other Variants in MVK
rs121917789 rs28934897 rs104895317 rs104895295 rs104895304 rs121917790 rs104895319 rs104895334 rs397514570 rs104895300
Ask Dr. Hemsworth about this variant