ClinVar Miner

List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome 1 by 3billion

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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_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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