ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00004
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00002
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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