ClinVar Miner

List of variants reported as benign for reticulate pigment disorder by Fulgent Genetics, Fulgent Genetics

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)	rs1466731	0.99604
NM_000424.4(KRT5):c.594C>A (p.Thr198=)	rs641621	0.22738

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