ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 2 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.488C>T (p.Thr163Ile) rs79310911 0.00001
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)

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