ClinVar Miner

List of variants reported as likely benign for Aicardi Goutieres syndrome

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_130384.3(ATRIP):c.*267T>C rs148393533 0.00332
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) rs7271776 0.00206
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_130384.3(ATRIP):c.*665C>T rs548710061 0.00108
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=) rs371992324 0.00009
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=) rs149098281 0.00006
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=) rs757642528 0.00005
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=) rs754519810 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=) rs760417947 0.00002
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=) rs1216724127 0.00001
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_130384.3(ATRIP):c.*272del rs3135939

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