ClinVar Miner

List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome by Invitae

Included ClinVar conditions (13):

Aicardi Goutieres syndrome
Aicardi Goutieres syndrome 1
Aicardi Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy; Chilblain lupus erythematosus
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
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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Total variants: 3

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HGVS	dbSNP
NC_000020.11:g.(?_36911198)_(36919539_?)dup
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)	rs1553696482
NM_033629.5(TREX1):c.829A>T (p.Lys277Ter)	rs1553820518

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