ClinVar Miner

List of variants studied for lupus erythematosus by Genome-Nilou Lab

Included ClinVar conditions (16):

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
Autosomal systemic lupus erythematosus type 16
Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Chilblain lupus
Chilblain lupus 1
Chilblain lupus 2
Cystic fibrosis; Systemic lupus erythematosus; Malaria, susceptibility to
Discoid lupus erythematosus
Systemic lupus erythematosus
Systemic lupus erythematosus 17
Systemic lupus erythematosus, susceptibility to
Systemic lupus erythematosus; Telangiectasia, hereditary hemorrhagic, type 1

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Minimum conflict level: Report conflict between different conditions
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.208+158A>G	rs6030389	0.90232
NM_015474.4(SAMHD1):c.276-105C>A	rs6030312	0.44115

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