ClinVar Miner

List of variants studied for cutaneous lupus erythematosus by New York Genome Center

Included ClinVar conditions (9):

Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Inborn genetic diseases
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 5; Chilblain lupus 2
Chilblain lupus
Chilblain lupus 1
Chilblain lupus 2
Discoid lupus erythematosus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	rs761596589	0.00001
NM_033629.6(TREX1):c.23dup (p.Pro10fs)	rs781731683

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