ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 1 by GeneReviews

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Total variants: 3

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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.58dup (p.Glu20fs)	rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)	rs78846775

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