ClinVar Miner

List of variants in gene combination KAT5, RNASEH2C reported as likely benign for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):

Aicardi Goutieres syndrome 3

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

Total variants: 4

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HGVS	dbSNP
NM_032193.4(RNASEH2C):c.*295C>T
NM_032193.4(RNASEH2C):c.*310C>T
NM_182710.3(KAT5):c.*60C>T	rs186106053
NM_182710.3(KAT5):c.1424+17C>T	rs4645938

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