ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 2

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Total variants: 25
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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.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter) rs74876702 0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter) rs75326546 0.00001
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile) rs79310911 0.00001
NM_024570.4(RNASEH2B):c.510+1G>A rs77301371 0.00001
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383 0.00001
NC_000013.10:g.(?_51484213)_(51484296_?)del
NC_000013.10:g.(?_51501523)_(51530610_?)del
NM_024570.4(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs) rs2137925083
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs) rs2137982729
NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)
NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs) rs1951857498
NM_024570.4(RNASEH2B):c.4del (p.Ala2fs) rs2137866137
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.63del (p.Glu22fs) rs2137866660
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)

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