ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_032193.4(RNASEH2C):c.*1007C>G
NM_032193.4(RNASEH2C):c.*572C>T
NM_032193.4(RNASEH2C):c.198C>T (p.Arg66=) rs200792226
NM_032193.4(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_182710.3(KAT5):c.1264+704G>A rs4645934
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-102A>G rs4645937
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-428T>C rs373799308
NM_182710.3(KAT5):c.1265-583G>A rs4645936
NM_182710.3(KAT5):c.1265-724A>G rs535111

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