ClinVar Miner

List of variants reported as likely benign for Aicardi-Goutieres syndrome 4 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=) rs147131347 0.00078
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) rs143029477 0.00075
NM_006397.3(RNASEH2A):c.417C>T (p.Phe139=) rs201413125 0.00067
NM_006397.3(RNASEH2A):c.199+9G>C rs370775997 0.00048
NM_006397.3(RNASEH2A):c.323+17A>C rs368719908 0.00041
NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=) rs144494263 0.00029
NM_006397.3(RNASEH2A):c.857G>A (p.Arg286Gln) rs778842661 0.00016
NM_006397.3(RNASEH2A):c.550-6C>T rs759687766 0.00015
NM_006397.3(RNASEH2A):c.200-8C>T rs370810663 0.00014
NM_006397.3(RNASEH2A):c.741A>G (p.Lys247=) rs140320292 0.00013
NM_006397.3(RNASEH2A):c.127+14G>T rs758619313 0.00012
NM_006397.3(RNASEH2A):c.199+8C>G rs200834484 0.00011
NM_006397.3(RNASEH2A):c.366T>G (p.Thr122=) rs752467571 0.00011
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006397.3(RNASEH2A):c.128-13C>T rs201345414 0.00010
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) rs778120777 0.00007
NM_006397.3(RNASEH2A):c.108G>A (p.Ala36=) rs774063653 0.00006
NM_006397.3(RNASEH2A):c.426C>T (p.Thr142=) rs376539482 0.00006
NM_006397.3(RNASEH2A):c.453G>A (p.Ala151=) rs148346342 0.00006
NM_006397.3(RNASEH2A):c.638-9C>A rs370005103 0.00006
NM_006397.3(RNASEH2A):c.127+16C>T rs780296539 0.00005
NM_006397.3(RNASEH2A):c.323+20G>A rs534725116 0.00005
NM_006397.3(RNASEH2A):c.550-17G>A rs372001384 0.00005
NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=) rs540611823 0.00004
NM_006397.3(RNASEH2A):c.489G>A (p.Thr163=) rs533339996 0.00004
NM_006397.3(RNASEH2A):c.761+16G>A rs558675752 0.00004
NM_006397.3(RNASEH2A):c.780G>A (p.Glu260=) rs774054854 0.00004
NM_006397.3(RNASEH2A):c.323+14G>A rs375035268 0.00003
NM_006397.3(RNASEH2A):c.873C>T (p.Arg291=) rs746693346 0.00003
NM_006397.3(RNASEH2A):c.309C>T (p.Thr103=) rs755642568 0.00002
NM_006397.3(RNASEH2A):c.384A>T (p.Ala128=) rs781729375 0.00002
NM_006397.3(RNASEH2A):c.412-17G>A rs778916656 0.00002
NM_006397.3(RNASEH2A):c.465A>G (p.Gln155=) rs758492414 0.00002
NM_006397.3(RNASEH2A):c.474C>T (p.Pro158=) rs201180210 0.00002
NM_006397.3(RNASEH2A):c.637+18C>G rs372421261 0.00002
NM_006397.3(RNASEH2A):c.720G>A (p.Thr240=) rs752200471 0.00002
NM_006397.3(RNASEH2A):c.132C>T (p.Pro44=) rs752762157 0.00001
NM_006397.3(RNASEH2A):c.199+18G>C rs992561670 0.00001
NM_006397.3(RNASEH2A):c.200-19C>T rs753801448 0.00001
NM_006397.3(RNASEH2A):c.222C>T (p.Ser74=) rs891089016 0.00001
NM_006397.3(RNASEH2A):c.258G>A (p.Thr86=) rs1414753414 0.00001
NM_006397.3(RNASEH2A):c.267C>T (p.Val89=) rs765310821 0.00001
NM_006397.3(RNASEH2A):c.275C>T (p.Ala92Val) rs562864527 0.00001
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) rs374650162 0.00001
NM_006397.3(RNASEH2A):c.396C>T (p.Gly132=) rs1360201052 0.00001
NM_006397.3(RNASEH2A):c.405C>T (p.Val135=) rs1164184621 0.00001
NM_006397.3(RNASEH2A):c.411+19G>T rs758134473 0.00001
NM_006397.3(RNASEH2A):c.412-15C>T rs745955556 0.00001
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) rs1415211346 0.00001
NM_006397.3(RNASEH2A):c.549+7A>G rs765467499 0.00001
NM_006397.3(RNASEH2A):c.550-13G>C rs560268310 0.00001
NM_006397.3(RNASEH2A):c.561C>T (p.Asp187=) rs757010668 0.00001
NM_006397.3(RNASEH2A):c.576A>G (p.Lys192=) rs770200744 0.00001
NM_006397.3(RNASEH2A):c.585C>T (p.Phe195=) rs372984331 0.00001
NM_006397.3(RNASEH2A):c.637+20T>C rs778278707 0.00001
NM_006397.3(RNASEH2A):c.637+8G>A rs757139110 0.00001
NM_006397.3(RNASEH2A):c.638-19A>G rs758113011 0.00001
NM_006397.3(RNASEH2A):c.654G>A (p.Ala218=) rs779317641 0.00001
NM_006397.3(RNASEH2A):c.669C>T (p.His223=) rs531859310 0.00001
NM_006397.3(RNASEH2A):c.761+15T>G rs773058733 0.00001
NM_006397.3(RNASEH2A):c.762-13C>G rs781591228 0.00001
NM_006397.3(RNASEH2A):c.102T>C (p.Asp34=)
NM_006397.3(RNASEH2A):c.120C>A (p.Pro40=) rs754428850
NM_006397.3(RNASEH2A):c.120C>G (p.Pro40=) rs754428850
NM_006397.3(RNASEH2A):c.120C>T (p.Pro40=)
NM_006397.3(RNASEH2A):c.123G>C (p.Val41=)
NM_006397.3(RNASEH2A):c.127+10T>A
NM_006397.3(RNASEH2A):c.127+12G>T
NM_006397.3(RNASEH2A):c.127+15C>T
NM_006397.3(RNASEH2A):c.127+17A>G rs751674576
NM_006397.3(RNASEH2A):c.127+7C>T
NM_006397.3(RNASEH2A):c.127+8C>T
NM_006397.3(RNASEH2A):c.127+9C>T
NM_006397.3(RNASEH2A):c.128-11C>G rs751799260
NM_006397.3(RNASEH2A):c.128-12C>T
NM_006397.3(RNASEH2A):c.128-13C>A
NM_006397.3(RNASEH2A):c.128-14C>A
NM_006397.3(RNASEH2A):c.128-20C>T
NM_006397.3(RNASEH2A):c.128-20del
NM_006397.3(RNASEH2A):c.128-4C>A
NM_006397.3(RNASEH2A):c.128-4C>G
NM_006397.3(RNASEH2A):c.132C>A (p.Pro44=)
NM_006397.3(RNASEH2A):c.138C>T (p.Val46=)
NM_006397.3(RNASEH2A):c.141C>T (p.Tyr47=) rs951143348
NM_006397.3(RNASEH2A):c.15G>A (p.Glu5=)
NM_006397.3(RNASEH2A):c.169C>T (p.Leu57=)
NM_006397.3(RNASEH2A):c.16C>T (p.Leu6=) rs2145823986
NM_006397.3(RNASEH2A):c.177T>C (p.Asp59=)
NM_006397.3(RNASEH2A):c.186G>A (p.Ala62=)
NM_006397.3(RNASEH2A):c.186G>T (p.Ala62=)
NM_006397.3(RNASEH2A):c.187C>T (p.Leu63=)
NM_006397.3(RNASEH2A):c.18G>A (p.Leu6=)
NM_006397.3(RNASEH2A):c.199+17C>G rs543028866
NM_006397.3(RNASEH2A):c.199+18G>A
NM_006397.3(RNASEH2A):c.199+8C>T rs200834484
NM_006397.3(RNASEH2A):c.199+9G>A
NM_006397.3(RNASEH2A):c.200-12A>T rs2145824725
NM_006397.3(RNASEH2A):c.200-15C>T
NM_006397.3(RNASEH2A):c.200-16C>G
NM_006397.3(RNASEH2A):c.200-20T>G
NM_006397.3(RNASEH2A):c.200-6_200-4del rs1181055837
NM_006397.3(RNASEH2A):c.207G>A (p.Lys69=)
NM_006397.3(RNASEH2A):c.210C>A (p.Thr70=) rs1335849179
NM_006397.3(RNASEH2A):c.210C>T (p.Thr70=) rs1335849179
NM_006397.3(RNASEH2A):c.213A>G (p.Leu71=) rs779678489
NM_006397.3(RNASEH2A):c.214T>C (p.Leu72=)
NM_006397.3(RNASEH2A):c.219G>A (p.Glu73=)
NM_006397.3(RNASEH2A):c.21G>A (p.Glu7=)
NM_006397.3(RNASEH2A):c.228G>T (p.Arg76=) rs1568386709
NM_006397.3(RNASEH2A):c.231A>G (p.Glu77=)
NM_006397.3(RNASEH2A):c.234G>A (p.Arg78=)
NM_006397.3(RNASEH2A):c.237G>A (p.Leu79=)
NM_006397.3(RNASEH2A):c.276G>C (p.Ala92=)
NM_006397.3(RNASEH2A):c.276G>T (p.Ala92=)
NM_006397.3(RNASEH2A):c.286C>T (p.Leu96=) rs2145824903
NM_006397.3(RNASEH2A):c.297C>T (p.Asn99=)
NM_006397.3(RNASEH2A):c.323+10C>T
NM_006397.3(RNASEH2A):c.323+11C>T
NM_006397.3(RNASEH2A):c.323+13C>T rs748345143
NM_006397.3(RNASEH2A):c.324-10C>G
NM_006397.3(RNASEH2A):c.324-10C>T rs773495954
NM_006397.3(RNASEH2A):c.324-17T>G
NM_006397.3(RNASEH2A):c.324-37_324-10del
NM_006397.3(RNASEH2A):c.324-5C>G
NM_006397.3(RNASEH2A):c.324-6C>A rs1599533222
NM_006397.3(RNASEH2A):c.324-7A>G
NM_006397.3(RNASEH2A):c.333C>T (p.Tyr111=) rs764935201
NM_006397.3(RNASEH2A):c.336C>T (p.Asn112=) rs906764918
NM_006397.3(RNASEH2A):c.345C>T (p.Ser115=)
NM_006397.3(RNASEH2A):c.346C>T (p.Leu116=) rs1599533254
NM_006397.3(RNASEH2A):c.348G>A (p.Leu116=)
NM_006397.3(RNASEH2A):c.351A>G (p.Ser117=)
NM_006397.3(RNASEH2A):c.354T>C (p.His118=)
NM_006397.3(RNASEH2A):c.363C>T (p.Ala121=)
NM_006397.3(RNASEH2A):c.378G>A (p.Gln126=)
NM_006397.3(RNASEH2A):c.381T>C (p.Tyr127=) rs1381895095
NM_006397.3(RNASEH2A):c.385T>C (p.Leu129=)
NM_006397.3(RNASEH2A):c.411+10C>T
NM_006397.3(RNASEH2A):c.411+12_411+13del rs892250160
NM_006397.3(RNASEH2A):c.411+15A>T
NM_006397.3(RNASEH2A):c.412-11T>G
NM_006397.3(RNASEH2A):c.412-18T>C
NM_006397.3(RNASEH2A):c.412-20T>C
NM_006397.3(RNASEH2A):c.412-7G>A
NM_006397.3(RNASEH2A):c.414A>G (p.Val138=)
NM_006397.3(RNASEH2A):c.426C>G (p.Thr142=)
NM_006397.3(RNASEH2A):c.441G>A (p.Glu147=)
NM_006397.3(RNASEH2A):c.447C>T (p.Tyr149=)
NM_006397.3(RNASEH2A):c.450G>A (p.Gln150=)
NM_006397.3(RNASEH2A):c.456G>A (p.Arg152=)
NM_006397.3(RNASEH2A):c.459G>C (p.Leu153=)
NM_006397.3(RNASEH2A):c.45C>A (p.Arg15=)
NM_006397.3(RNASEH2A):c.483G>A (p.Glu161=) rs754899919
NM_006397.3(RNASEH2A):c.519G>A (p.Pro173=)
NM_006397.3(RNASEH2A):c.522G>A (p.Val174=)
NM_006397.3(RNASEH2A):c.549+13C>A
NM_006397.3(RNASEH2A):c.549+17C>T rs1354190203
NM_006397.3(RNASEH2A):c.549+19A>G
NM_006397.3(RNASEH2A):c.549+19A>T
NM_006397.3(RNASEH2A):c.549+9C>T
NM_006397.3(RNASEH2A):c.54G>T (p.Ser18=)
NM_006397.3(RNASEH2A):c.550-13G>A rs560268310
NM_006397.3(RNASEH2A):c.550-16C>G
NM_006397.3(RNASEH2A):c.550-16C>T
NM_006397.3(RNASEH2A):c.550-4A>C
NM_006397.3(RNASEH2A):c.550-8G>A
NM_006397.3(RNASEH2A):c.550-9T>C
NM_006397.3(RNASEH2A):c.550-9T>G
NM_006397.3(RNASEH2A):c.567C>G (p.Ala189=)
NM_006397.3(RNASEH2A):c.567C>T (p.Ala189=)
NM_006397.3(RNASEH2A):c.591G>A (p.Glu197=)
NM_006397.3(RNASEH2A):c.595C>T (p.Leu199=)
NM_006397.3(RNASEH2A):c.603C>T (p.Asp201=) rs868054183
NM_006397.3(RNASEH2A):c.604T>C (p.Leu202=)
NM_006397.3(RNASEH2A):c.605_606inv (p.Leu202Ser)
NM_006397.3(RNASEH2A):c.612T>C (p.Thr204=)
NM_006397.3(RNASEH2A):c.615T>C (p.Asp205=)
NM_006397.3(RNASEH2A):c.627C>G (p.Gly209=)
NM_006397.3(RNASEH2A):c.637+12C>T
NM_006397.3(RNASEH2A):c.637+13G>T
NM_006397.3(RNASEH2A):c.637+18C>T
NM_006397.3(RNASEH2A):c.637+19A>C rs375522285
NM_006397.3(RNASEH2A):c.637+19A>G
NM_006397.3(RNASEH2A):c.637+9A>G
NM_006397.3(RNASEH2A):c.638-14C>T
NM_006397.3(RNASEH2A):c.638-15C>T
NM_006397.3(RNASEH2A):c.638-4C>T
NM_006397.3(RNASEH2A):c.63C>T (p.Pro21=) rs747090950
NM_006397.3(RNASEH2A):c.642C>T (p.Pro214=)
NM_006397.3(RNASEH2A):c.648A>G (p.Thr216=)
NM_006397.3(RNASEH2A):c.660G>A (p.Leu220=)
NM_006397.3(RNASEH2A):c.672G>A (p.Val224=)
NM_006397.3(RNASEH2A):c.702C>A (p.Val234=)
NM_006397.3(RNASEH2A):c.705G>A (p.Arg235=) rs1969097772
NM_006397.3(RNASEH2A):c.705G>C (p.Arg235=)
NM_006397.3(RNASEH2A):c.717C>A (p.Arg239=)
NM_006397.3(RNASEH2A):c.723C>T (p.Ala241=)
NM_006397.3(RNASEH2A):c.747G>C (p.Ala249=)
NM_006397.3(RNASEH2A):c.747G>T (p.Ala249=) rs144494263
NM_006397.3(RNASEH2A):c.761+11T>C
NM_006397.3(RNASEH2A):c.761+12G>A
NM_006397.3(RNASEH2A):c.761+12G>T rs1969099251
NM_006397.3(RNASEH2A):c.761+13G>A
NM_006397.3(RNASEH2A):c.761+14A>T
NM_006397.3(RNASEH2A):c.761+18C>T rs2145830337
NM_006397.3(RNASEH2A):c.761+20T>C rs2145830339
NM_006397.3(RNASEH2A):c.761+20dup
NM_006397.3(RNASEH2A):c.762-11C>G
NM_006397.3(RNASEH2A):c.762-14C>A
NM_006397.3(RNASEH2A):c.762-18A>G
NM_006397.3(RNASEH2A):c.762-5C>T
NM_006397.3(RNASEH2A):c.762-9C>A
NM_006397.3(RNASEH2A):c.774A>G (p.Ala258=) rs1599537429
NM_006397.3(RNASEH2A):c.792A>G (p.Gly264=) rs1969102244
NM_006397.3(RNASEH2A):c.813C>T (p.Tyr271=)
NM_006397.3(RNASEH2A):c.816C>T (p.Phe272=) rs2145830480
NM_006397.3(RNASEH2A):c.81G>A (p.Glu27=)
NM_006397.3(RNASEH2A):c.822T>C (p.Asn274=)
NM_006397.3(RNASEH2A):c.825A>G (p.Glu275=)
NM_006397.3(RNASEH2A):c.828G>C (p.Gly276=)
NM_006397.3(RNASEH2A):c.843C>T (p.Pro281=)
NM_006397.3(RNASEH2A):c.852C>A (p.Ser284=)
NM_006397.3(RNASEH2A):c.864C>T (p.Phe288=)
NM_006397.3(RNASEH2A):c.870A>G (p.Glu290=)
NM_006397.3(RNASEH2A):c.877C>T (p.Leu293=)
NM_006397.3(RNASEH2A):c.87C>T (p.Cys29=)
NM_006397.3(RNASEH2A):c.882G>A (p.Glu294=)
NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.