ClinVar Miner

List of variants in gene MMAB, MVK, UBE3B studied for hyperimmunoglobulinemia D with periodic fever

Included ClinVar conditions (3):

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NC_000012.11:g.(?_109921357)_(110034382_?)dup

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