ClinVar Miner

List of variants in gene RNASEH2B reported as likely benign for Aicardi-Goutieres syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_024570.4(RNASEH2B):c.203A>G (p.Glu68Gly) rs148811739 0.00118
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=) rs200721645 0.00043
NM_024570.4(RNASEH2B):c.762G>A (p.Glu254=) rs146378238 0.00029
NM_024570.4(RNASEH2B):c.564G>C (p.Arg188=) rs141367253 0.00011
NM_024570.4(RNASEH2B):c.549G>A (p.Val183=) rs760862553 0.00010
NM_024570.4(RNASEH2B):c.742-20T>C rs755138594 0.00006
NM_024570.4(RNASEH2B):c.823-16_823-15del rs771820918 0.00006
NM_024570.4(RNASEH2B):c.322-5T>G rs761515995 0.00004
NM_024570.4(RNASEH2B):c.576T>G (p.Thr192=) rs780872918 0.00004
NM_024570.4(RNASEH2B):c.65-14C>T rs779646425 0.00004
NM_024570.4(RNASEH2B):c.828T>C (p.Asn276=) rs950747194 0.00004
NM_024570.4(RNASEH2B):c.240A>G (p.Gln80=) rs781187392 0.00003
NM_024570.4(RNASEH2B):c.617-7C>G rs367604928 0.00003
NM_024570.4(RNASEH2B):c.177G>A (p.Gln59=) rs141881672 0.00002
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327 0.00002
NM_024570.4(RNASEH2B):c.65-11T>C rs374358281 0.00002
NM_024570.4(RNASEH2B):c.102G>A (p.Gly34=) rs764270783 0.00001
NM_024570.4(RNASEH2B):c.129C>A (p.Pro43=) rs199839728 0.00001
NM_024570.4(RNASEH2B):c.136+8C>T rs891972892 0.00001
NM_024570.4(RNASEH2B):c.137-15G>T rs1406636563 0.00001
NM_024570.4(RNASEH2B):c.183T>C (p.Phe61=) rs368589166 0.00001
NM_024570.4(RNASEH2B):c.244+7G>A rs1593458121 0.00001
NM_024570.4(RNASEH2B):c.300C>T (p.Tyr100=) rs1467684524 0.00001
NM_024570.4(RNASEH2B):c.321+13C>T rs758688261 0.00001
NM_024570.4(RNASEH2B):c.321+15C>T rs372703323 0.00001
NM_024570.4(RNASEH2B):c.321+16G>A rs1490426503 0.00001
NM_024570.4(RNASEH2B):c.387G>A (p.Leu129=) rs756682554 0.00001
NM_024570.4(RNASEH2B):c.510+18T>C rs765819204 0.00001
NM_024570.4(RNASEH2B):c.616+16T>C rs1329814638 0.00001
NM_024570.4(RNASEH2B):c.894T>C (p.Asp298=) rs1593481878 0.00001
NM_024570.4(RNASEH2B):c.895A>G (p.Thr299Ala) rs370507842 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024570.4(RNASEH2B):c.933G>A (p.Lys311=) rs951129269 0.00001
NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=)
NM_024570.4(RNASEH2B):c.132T>C (p.Cys44=)
NM_024570.4(RNASEH2B):c.136+10C>G
NM_024570.4(RNASEH2B):c.136+15C>A rs2137925214
NM_024570.4(RNASEH2B):c.137-10G>A
NM_024570.4(RNASEH2B):c.137-11del rs1163774369
NM_024570.4(RNASEH2B):c.137-17_137-14del
NM_024570.4(RNASEH2B):c.137-8C>T
NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=)
NM_024570.4(RNASEH2B):c.153C>T (p.Tyr51=) rs772503413
NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=)
NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=)
NM_024570.4(RNASEH2B):c.180G>C (p.Leu60=) rs556877869
NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=)
NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=)
NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)
NM_024570.4(RNASEH2B):c.231A>G (p.Gln77=)
NM_024570.4(RNASEH2B):c.234A>C (p.Ser78=)
NM_024570.4(RNASEH2B):c.234A>G (p.Ser78=)
NM_024570.4(RNASEH2B):c.244+12G>A
NM_024570.4(RNASEH2B):c.245-12T>C
NM_024570.4(RNASEH2B):c.245-12T>G rs1019503838
NM_024570.4(RNASEH2B):c.245-20A>T rs1335370320
NM_024570.4(RNASEH2B):c.245-20_245-19del rs2137937744
NM_024570.4(RNASEH2B):c.245-5T>C
NM_024570.4(RNASEH2B):c.245-7T>C
NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=)
NM_024570.4(RNASEH2B):c.288G>T (p.Leu96=)
NM_024570.4(RNASEH2B):c.294C>A (p.Leu98=)
NM_024570.4(RNASEH2B):c.294C>T (p.Leu98=)
NM_024570.4(RNASEH2B):c.318G>A (p.Lys106=)
NM_024570.4(RNASEH2B):c.321+10C>T
NM_024570.4(RNASEH2B):c.321+11A>G
NM_024570.4(RNASEH2B):c.321+12G>T
NM_024570.4(RNASEH2B):c.321+15C>G
NM_024570.4(RNASEH2B):c.321+16G>C
NM_024570.4(RNASEH2B):c.321+16_321+17dup
NM_024570.4(RNASEH2B):c.321+18A>C
NM_024570.4(RNASEH2B):c.321+18A>T
NM_024570.4(RNASEH2B):c.321+20C>T
NM_024570.4(RNASEH2B):c.322-10G>A
NM_024570.4(RNASEH2B):c.322-10_322-9del rs748279384
NM_024570.4(RNASEH2B):c.322-14A>G
NM_024570.4(RNASEH2B):c.322-14_322-11del
NM_024570.4(RNASEH2B):c.322-15T>C
NM_024570.4(RNASEH2B):c.322-15dup
NM_024570.4(RNASEH2B):c.322-18A>G
NM_024570.4(RNASEH2B):c.322-18A>T rs1307534508
NM_024570.4(RNASEH2B):c.322-19C>A rs1951726082
NM_024570.4(RNASEH2B):c.322-4T>A rs1206184671
NM_024570.4(RNASEH2B):c.322-5T>C
NM_024570.4(RNASEH2B):c.322-9T>G
NM_024570.4(RNASEH2B):c.324G>A (p.Gly108=)
NM_024570.4(RNASEH2B):c.327G>A (p.Lys109=)
NM_024570.4(RNASEH2B):c.333G>A (p.Gln111=) rs1951726697
NM_024570.4(RNASEH2B):c.336C>G (p.Pro112=) rs1161911136
NM_024570.4(RNASEH2B):c.336C>T (p.Pro112=)
NM_024570.4(RNASEH2B):c.354G>A (p.Val118=) rs1951726994
NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)
NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=)
NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=)
NM_024570.4(RNASEH2B):c.408G>A (p.Lys136=)
NM_024570.4(RNASEH2B):c.420T>C (p.His140=)
NM_024570.4(RNASEH2B):c.426A>G (p.Thr142=) rs2137952831
NM_024570.4(RNASEH2B):c.436+10A>C rs2137952956
NM_024570.4(RNASEH2B):c.436+8A>G
NM_024570.4(RNASEH2B):c.437-18T>A
NM_024570.4(RNASEH2B):c.437-20A>G
NM_024570.4(RNASEH2B):c.437-5T>C
NM_024570.4(RNASEH2B):c.437-9T>C
NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=)
NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=)
NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=)
NM_024570.4(RNASEH2B):c.474C>T (p.Tyr158=)
NM_024570.4(RNASEH2B):c.483G>A (p.Glu161=)
NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=)
NM_024570.4(RNASEH2B):c.492A>G (p.Leu164=) rs1223516700
NM_024570.4(RNASEH2B):c.501G>A (p.Leu167=) rs1951857767
NM_024570.4(RNASEH2B):c.510+10C>T
NM_024570.4(RNASEH2B):c.510+12C>G
NM_024570.4(RNASEH2B):c.510+12C>T
NM_024570.4(RNASEH2B):c.510+13T>C
NM_024570.4(RNASEH2B):c.510+17G>A
NM_024570.4(RNASEH2B):c.510+19G>A
NM_024570.4(RNASEH2B):c.510+7T>G rs1030880550
NM_024570.4(RNASEH2B):c.511-16C>T
NM_024570.4(RNASEH2B):c.511-18C>A
NM_024570.4(RNASEH2B):c.511-19C>A
NM_024570.4(RNASEH2B):c.511-4A>T
NM_024570.4(RNASEH2B):c.511-5C>A rs2137990410
NM_024570.4(RNASEH2B):c.511-9G>A
NM_024570.4(RNASEH2B):c.522T>C (p.Thr174=) rs200390483
NM_024570.4(RNASEH2B):c.531A>G (p.Ala177=) rs2137990642
NM_024570.4(RNASEH2B):c.555C>G (p.Val185=)
NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=)
NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=)
NM_024570.4(RNASEH2B):c.616+10G>A
NM_024570.4(RNASEH2B):c.616+10G>T
NM_024570.4(RNASEH2B):c.616+12A>G
NM_024570.4(RNASEH2B):c.616+13T>C
NM_024570.4(RNASEH2B):c.616+9dup
NM_024570.4(RNASEH2B):c.617-11G>A rs201473333
NM_024570.4(RNASEH2B):c.617-11G>C
NM_024570.4(RNASEH2B):c.617-12del
NM_024570.4(RNASEH2B):c.617-14T>C
NM_024570.4(RNASEH2B):c.617-14_617-12del
NM_024570.4(RNASEH2B):c.617-17_617-15del rs781083153
NM_024570.4(RNASEH2B):c.617-19C>T
NM_024570.4(RNASEH2B):c.617-6T>A
NM_024570.4(RNASEH2B):c.617-9_617-8del
NM_024570.4(RNASEH2B):c.639T>C (p.His213=) rs1265842301
NM_024570.4(RNASEH2B):c.645G>A (p.Leu215=)
NM_024570.4(RNASEH2B):c.65-13G>C
NM_024570.4(RNASEH2B):c.65-18T>A rs2137924729
NM_024570.4(RNASEH2B):c.65-19A>G rs2137924712
NM_024570.4(RNASEH2B):c.698+13T>A
NM_024570.4(RNASEH2B):c.698+14A>G
NM_024570.4(RNASEH2B):c.698+16C>A
NM_024570.4(RNASEH2B):c.699-10A>T
NM_024570.4(RNASEH2B):c.699-20G>A rs749427005
NM_024570.4(RNASEH2B):c.699-6T>C
NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=)
NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=)
NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=)
NM_024570.4(RNASEH2B):c.72A>G (p.Leu24=) rs748052389
NM_024570.4(RNASEH2B):c.735A>G (p.Pro245=)
NM_024570.4(RNASEH2B):c.741+11G>A
NM_024570.4(RNASEH2B):c.741+20A>G
NM_024570.4(RNASEH2B):c.741+8G>A
NM_024570.4(RNASEH2B):c.741+8G>T
NM_024570.4(RNASEH2B):c.742-12C>T rs779113809
NM_024570.4(RNASEH2B):c.742-13T>C
NM_024570.4(RNASEH2B):c.742-15G>T rs2138019958
NM_024570.4(RNASEH2B):c.742-19C>T
NM_024570.4(RNASEH2B):c.783T>C (p.Asp261=) rs1432063381
NM_024570.4(RNASEH2B):c.789T>C (p.Thr263=)
NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=)
NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=)
NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=)
NM_024570.4(RNASEH2B):c.822+14G>A
NM_024570.4(RNASEH2B):c.822+15G>A
NM_024570.4(RNASEH2B):c.822+15G>T
NM_024570.4(RNASEH2B):c.822+18T>C
NM_024570.4(RNASEH2B):c.822+8G>A
NM_024570.4(RNASEH2B):c.822+9G>A
NM_024570.4(RNASEH2B):c.823-13T>A
NM_024570.4(RNASEH2B):c.823-13T>C
NM_024570.4(RNASEH2B):c.823-17C>T rs773982703
NM_024570.4(RNASEH2B):c.823-18T>G
NM_024570.4(RNASEH2B):c.823-18_823-15del
NM_024570.4(RNASEH2B):c.823-19C>G
NM_024570.4(RNASEH2B):c.823-5A>G
NM_024570.4(RNASEH2B):c.823-6del
NM_024570.4(RNASEH2B):c.823-9C>A
NM_024570.4(RNASEH2B):c.831C>T (p.Ser277=) rs2138027156
NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=)
NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=)
NM_024570.4(RNASEH2B):c.856T>C (p.Leu286=)
NM_024570.4(RNASEH2B):c.858G>A (p.Leu286=)
NM_024570.4(RNASEH2B):c.867T>A (p.Val289=)
NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=)
NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=)

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