ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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