ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 22
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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.437-1G>A rs777313709 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.245-2A>C
NM_024570.4(RNASEH2B):c.245-2A>G
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.617-2A>G
NM_024570.4(RNASEH2B):c.64+2_64+6del
NM_024570.4(RNASEH2B):c.65-1G>A
NM_024570.4(RNASEH2B):c.698+1G>C
NM_024570.4(RNASEH2B):c.742-1_742delinsAC

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