ClinVar Miner

List of variants reported as benign for reticulate pigment disorder by Genome-Nilou Lab

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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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.78G>A (p.Arg26=)	rs1802645	0.99723
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)	rs1466731	0.99604
NM_152305.3(POGLUT1):c.457-25G>A	rs4688007	0.81781
NM_015352.2(POFUT1):c.75T>C (p.Pro25=)	rs1923095	0.69055
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)	rs2229857	0.61729
NM_152305.3(POGLUT1):c.456+39G>T	rs3732419	0.59158
NM_001111.5(ADAR):c.3443+8G>A	rs9427094	0.40966
NM_001111.5(ADAR):c.2496+35C>G	rs7532276

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