ClinVar Miner

List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.290G>A (p.Arg97His)	rs200773268	0.00003
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	rs969498121
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)	rs1354160835

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