ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*542G>A rs186106053 0.00206
NM_032193.4(RNASEH2C):c.*1017G>A rs4645938 0.00130
NM_032193.4(RNASEH2C):c.*295C>T rs538167829 0.00067
NM_032193.4(RNASEH2C):c.*310C>T rs190723966

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