ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_032193.4(RNASEH2C):c.*1007C>G rs112903919 0.01000
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_032193.4(RNASEH2C):c.*1621A>G rs373799308 0.00007
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=) rs376140250 0.00003
NM_032193.4(RNASEH2C):c.*572C>T rs200332583 0.00002
NM_032193.4(RNASEH2C):c.198C>T (p.Arg66=) rs200792226 0.00001
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736

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