ClinVar Miner

List of variants studied for Dowling-Degos disease by OMIM

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
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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_000424.4(KRT5):c.14C>A (p.Ser5Ter)	rs58751565
NM_000424.4(KRT5):c.418dup (p.Ile140fs)	rs61348424
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter)	rs398123038
NM_015352.2(POFUT1):c.482del (p.Lys161fs)	rs886041033
NM_152305.3(POGLUT1):c.835dup (p.Arg279fs)	rs587777296

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