ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001142279.2(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001142279.2(RNASEH2B):c.698+1G>A rs367915667
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679

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