ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (20):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe)	rs1262454987	0.00001
NM_032193.4(RNASEH2C):c.*78A>G	rs1857332269

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