ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Lifecell International Pvt. Ltd

Included ClinVar conditions (20):

Aicardi Goutieres syndrome
Aicardi-Goutieres syndrome 1
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 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 5; Chilblain lupus 2
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Aicardi-Goutieres syndrome 8
Aicardi-Goutieres syndrome 9
Basal ganglia calcification, idiopathic, childhood-onset
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022168.4(IFIH1):c.2304+1G>T	rs762865950
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695

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