ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001142279.2(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_001142279.2(RNASEH2B):c.136+1del rs75186889
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.3(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383
NM_024570.3(RNASEH2B):c.719C>G (p.Ser240Ter)

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