ClinVar Miner

List of variants in gene RNASEH2B reported as pathogenic for Aicardi Goutieres syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)

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