ClinVar Miner

List of variants in gene POGLUT1 studied for Dowling-Degos disease

Included ClinVar conditions (5):

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; 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

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_152305.3(POGLUT1):c.457-25G>A	rs4688007	0.81781
NM_152305.3(POGLUT1):c.456+39G>T	rs3732419	0.59158
NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp)	rs587777297	0.00002
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)	rs587777293	0.00001
NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)	rs587777294	0.00001
NM_152305.3(POGLUT1):c.798-2A>C	rs587777295	0.00001
NM_152305.3(POGLUT1):c.835dup (p.Arg279fs)	rs587777296

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