ClinVar Miner

List of variants reported as pathogenic for RNU7-1-related type 1 interferonopathy by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (1):

Aicardi-Goutieres syndrome 9

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: 1

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HGVS	dbSNP	gnomAD frequency
NR_023317.1(RNU7-1):n.28C>T	rs180837208

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