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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	rs587777446
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798

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