ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg) rs1697938546
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752

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