ClinVar Miner

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

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ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_032193.4(RNASEH2C):c.*542G>A rs186106053 0.00206
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.*1017G>A rs4645938 0.00130
NM_032193.4(RNASEH2C):c.*295C>T rs538167829 0.00067
NM_032193.4(RNASEH2C):c.393G>A (p.Leu131=) rs138181714 0.00024
NM_032193.4(RNASEH2C):c.348+18G>A rs372964595 0.00016
NM_032193.4(RNASEH2C):c.349-12C>G rs368723275 0.00008
NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=) rs749020058 0.00005
NM_032193.4(RNASEH2C):c.349-16C>T rs199868316 0.00004
NM_032193.4(RNASEH2C):c.459T>C (p.Leu153=) rs771390677 0.00003
NM_032193.4(RNASEH2C):c.172+12G>A rs1169841008 0.00002
NM_032193.4(RNASEH2C):c.349-6C>T rs774542613 0.00002
NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=) rs1324205598 0.00001
NM_032193.4(RNASEH2C):c.172+17G>C rs746988112 0.00001
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.190C>A (p.Arg64=) rs760270515 0.00001
NM_032193.4(RNASEH2C):c.336G>A (p.Leu112=) rs762686846 0.00001
NM_032193.4(RNASEH2C):c.348+19T>C rs755524049 0.00001
NM_032193.4(RNASEH2C):c.399T>A (p.Gly133=) rs752570194 0.00001
NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=) rs1335036466 0.00001
NM_032193.4(RNASEH2C):c.468+16G>A rs1332044735 0.00001
NM_032193.4(RNASEH2C):c.468+17T>C rs777249456 0.00001
NM_032193.4(RNASEH2C):c.468+18T>C rs774537118 0.00001
NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=) rs373524507 0.00001
NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=) rs1419001598 0.00001
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.4(RNASEH2C):c.*310C>T rs190723966
NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)
NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=) rs2135654177
NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)
NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)
NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)
NM_032193.4(RNASEH2C):c.12C>G (p.Gly4=) rs1857363592
NM_032193.4(RNASEH2C):c.12C>T (p.Gly4=)
NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)
NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=) rs1857359996
NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)
NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)
NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)
NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=) rs2135654018
NM_032193.4(RNASEH2C):c.15C>T (p.Asp5=)
NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)
NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)
NM_032193.4(RNASEH2C):c.172+11C>A
NM_032193.4(RNASEH2C):c.172+13G>T
NM_032193.4(RNASEH2C):c.172+14C>A rs1027275130
NM_032193.4(RNASEH2C):c.172+15C>G
NM_032193.4(RNASEH2C):c.172+15C>T rs2135653906
NM_032193.4(RNASEH2C):c.172+19C>T
NM_032193.4(RNASEH2C):c.172+7C>T
NM_032193.4(RNASEH2C):c.172+8C>T
NM_032193.4(RNASEH2C):c.173-12C>T
NM_032193.4(RNASEH2C):c.173-13C>T rs764665591
NM_032193.4(RNASEH2C):c.173-15C>T
NM_032193.4(RNASEH2C):c.173-4C>T
NM_032193.4(RNASEH2C):c.173-5T>C
NM_032193.4(RNASEH2C):c.174A>C (p.Gly58=)
NM_032193.4(RNASEH2C):c.174A>T (p.Gly58=)
NM_032193.4(RNASEH2C):c.186G>A (p.Ser62=)
NM_032193.4(RNASEH2C):c.18A>G (p.Glu6=)
NM_032193.4(RNASEH2C):c.192G>A (p.Arg64=)
NM_032193.4(RNASEH2C):c.192G>C (p.Arg64=)
NM_032193.4(RNASEH2C):c.192G>T (p.Arg64=)
NM_032193.4(RNASEH2C):c.213G>A (p.Glu71=)
NM_032193.4(RNASEH2C):c.216G>A (p.Glu72=)
NM_032193.4(RNASEH2C):c.21G>A (p.Ala7=)
NM_032193.4(RNASEH2C):c.222G>A (p.Ala74=) rs1365307674
NM_032193.4(RNASEH2C):c.222G>T (p.Ala74=)
NM_032193.4(RNASEH2C):c.237C>G (p.Leu79=)
NM_032193.4(RNASEH2C):c.240G>A (p.Val80=)
NM_032193.4(RNASEH2C):c.243A>T (p.Gly81=) rs2135653152
NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=)
NM_032193.4(RNASEH2C):c.249G>A (p.Val83=)
NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=)
NM_032193.4(RNASEH2C):c.255G>A (p.Val85=)
NM_032193.4(RNASEH2C):c.258A>G (p.Thr86=)
NM_032193.4(RNASEH2C):c.258A>T (p.Thr86=) rs2135653109
NM_032193.4(RNASEH2C):c.261A>G (p.Glu87=) rs1857351791
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032193.4(RNASEH2C):c.267G>A (p.Lys89=)
NM_032193.4(RNASEH2C):c.27C>T (p.Ile9=)
NM_032193.4(RNASEH2C):c.294C>T (p.Pro98=)
NM_032193.4(RNASEH2C):c.295T>C (p.Leu99=)
NM_032193.4(RNASEH2C):c.306C>T (p.Ser102=)
NM_032193.4(RNASEH2C):c.309G>A (p.Gly103=)
NM_032193.4(RNASEH2C):c.309G>C (p.Gly103=)
NM_032193.4(RNASEH2C):c.315C>T (p.Asp105=)
NM_032193.4(RNASEH2C):c.324G>A (p.Glu108=)
NM_032193.4(RNASEH2C):c.333G>A (p.Pro111=)
NM_032193.4(RNASEH2C):c.334C>T (p.Leu112=)
NM_032193.4(RNASEH2C):c.33G>A (p.Arg11=) rs2135654495
NM_032193.4(RNASEH2C):c.340C>A (p.Arg114=)
NM_032193.4(RNASEH2C):c.342G>A (p.Arg114=)
NM_032193.4(RNASEH2C):c.348+10G>A rs2135652770
NM_032193.4(RNASEH2C):c.348+10G>C
NM_032193.4(RNASEH2C):c.348+11G>A rs376075138
NM_032193.4(RNASEH2C):c.348+11G>C
NM_032193.4(RNASEH2C):c.348+12G>A
NM_032193.4(RNASEH2C):c.348+12G>C
NM_032193.4(RNASEH2C):c.348+16G>A
NM_032193.4(RNASEH2C):c.348+17G>A rs1857349059
NM_032193.4(RNASEH2C):c.348+17G>C
NM_032193.4(RNASEH2C):c.348+19T>G
NM_032193.4(RNASEH2C):c.348+7A>G
NM_032193.4(RNASEH2C):c.348+7A>T
NM_032193.4(RNASEH2C):c.349-10C>T
NM_032193.4(RNASEH2C):c.349-12C>A
NM_032193.4(RNASEH2C):c.349-12C>T rs368723275
NM_032193.4(RNASEH2C):c.349-13G>A
NM_032193.4(RNASEH2C):c.349-14G>C
NM_032193.4(RNASEH2C):c.349-18G>A
NM_032193.4(RNASEH2C):c.349-8T>G
NM_032193.4(RNASEH2C):c.349-9C>G rs535966679
NM_032193.4(RNASEH2C):c.349-9C>T rs535966679
NM_032193.4(RNASEH2C):c.357C>T (p.Phe119=)
NM_032193.4(RNASEH2C):c.369T>C (p.Thr123=)
NM_032193.4(RNASEH2C):c.36C>T (p.His12=)
NM_032193.4(RNASEH2C):c.372C>G (p.Ala124=) rs1857346736
NM_032193.4(RNASEH2C):c.381C>T (p.Ser127=)
NM_032193.4(RNASEH2C):c.391C>T (p.Leu131=) rs1393994911
NM_032193.4(RNASEH2C):c.393G>T (p.Leu131=)
NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)
NM_032193.4(RNASEH2C):c.402G>A (p.Leu134=)
NM_032193.4(RNASEH2C):c.405G>A (p.Glu135=)
NM_032193.4(RNASEH2C):c.411C>T (p.Ile137=)
NM_032193.4(RNASEH2C):c.420G>A (p.Pro140=)
NM_032193.4(RNASEH2C):c.420G>T (p.Pro140=)
NM_032193.4(RNASEH2C):c.426C>T (p.Ala142=) rs753557040
NM_032193.4(RNASEH2C):c.435T>C (p.Arg145=)
NM_032193.4(RNASEH2C):c.438G>A (p.Gly146=)
NM_032193.4(RNASEH2C):c.441C>G (p.Ala147=) rs1857344657
NM_032193.4(RNASEH2C):c.447T>C (p.Thr149=)
NM_032193.4(RNASEH2C):c.468+10C>G
NM_032193.4(RNASEH2C):c.468+10C>T
NM_032193.4(RNASEH2C):c.468+11G>A
NM_032193.4(RNASEH2C):c.468+12_468+13del rs765857630
NM_032193.4(RNASEH2C):c.468+13G>C rs182000627
NM_032193.4(RNASEH2C):c.468+14G>A rs759952065
NM_032193.4(RNASEH2C):c.468+14G>T
NM_032193.4(RNASEH2C):c.468+15_468+22del
NM_032193.4(RNASEH2C):c.468+20C>T
NM_032193.4(RNASEH2C):c.468+20del
NM_032193.4(RNASEH2C):c.468+7A>G
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032193.4(RNASEH2C):c.468+8G>C rs751767695
NM_032193.4(RNASEH2C):c.469-10C>T
NM_032193.4(RNASEH2C):c.469-11T>G
NM_032193.4(RNASEH2C):c.469-12C>A rs764404552
NM_032193.4(RNASEH2C):c.469-12C>G rs764404552
NM_032193.4(RNASEH2C):c.469-14G>T
NM_032193.4(RNASEH2C):c.469-15C>T
NM_032193.4(RNASEH2C):c.469-17G>A
NM_032193.4(RNASEH2C):c.469-19G>A rs2135651382
NM_032193.4(RNASEH2C):c.469-7G>T rs1857335838
NM_032193.4(RNASEH2C):c.469-9C>G
NM_032193.4(RNASEH2C):c.469-9C>T
NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=) rs2135654441
NM_032193.4(RNASEH2C):c.474C>T (p.His158=)
NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)
NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)
NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)
NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)
NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)
NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=) rs2135654352
NM_032193.4(RNASEH2C):c.6G>A (p.Glu2=)
NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)
NM_032193.4(RNASEH2C):c.75A>C (p.Val25=)
NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)
NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)
NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=) rs781290873
NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)
NM_032193.4(RNASEH2C):c.96G>A (p.Leu32=)
NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)
NM_032193.4(RNASEH2C):c.9C>T (p.Ser3=)

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