ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 2 by Illumina Laboratory Services, Illumina

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.-210G>C rs112702177 0.02962
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132

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