ClinVar Miner

List of variants reported for Aicardi-Goutieres syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743

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