ClinVar Miner

List of variants reported as likely pathogenic for Aicardi Goutieres syndrome

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Total variants: 4
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HGVS dbSNP
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679

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