ClinVar Miner

List of variants in gene combination ADAR, LOC129931513 reported as uncertain significance for reticulate pigment disorder

Included ClinVar conditions (10):

Dowling-Degos disease 1
Dowling-Degos disease 2
Dowling-Degos disease 4
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Dowling-Degos disease 1
Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura; Alzheimer disease 18
Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.-85G>A	rs1470901197	0.00004
NM_001111.5(ADAR):c.-154C>T	rs1470021699	0.00002
NM_001111.5(ADAR):c.-71T>C	rs886045346	0.00001

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