ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 2 by Invitae

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.189A>G (p.Val63=) rs35595258 0.01095
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_024570.4(RNASEH2B):c.788C>G (p.Thr263Ser) rs183734174 0.00025
NM_024570.4(RNASEH2B):c.822+16T>C rs750179605 0.00007
NM_024570.4(RNASEH2B):c.137-19G>C rs201814710 0.00005
NM_024570.4(RNASEH2B):c.322-4del
NM_024570.4(RNASEH2B):c.322-4dup rs770781962
NM_024570.4(RNASEH2B):c.437-9del rs772054107
NM_024570.4(RNASEH2B):c.437-9dup rs772054107
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367

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