ClinVar Miner

List of variants in gene RNASEH2B studied for Aicardi-Goutieres syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 420
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.189A>G (p.Val63=) rs35595258 0.01095
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_024570.4(RNASEH2B):c.*246A>G rs147825612 0.00166
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_024570.4(RNASEH2B):c.203A>G (p.Glu68Gly) rs148811739 0.00109
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met) rs141049110 0.00053
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=) rs200721645 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_024570.4(RNASEH2B):c.762G>A (p.Glu254=) rs146378238 0.00029
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn) rs201190805 0.00026
NM_024570.4(RNASEH2B):c.788C>G (p.Thr263Ser) rs183734174 0.00025
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_024570.4(RNASEH2B):c.895A>G (p.Thr299Ala) rs370507842 0.00018
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.618G>T (p.Glu206Asp) rs762258182 0.00010
NM_024570.4(RNASEH2B):c.*76T>A rs750903767 0.00009
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) rs138649673 0.00006
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.904G>A (p.Gly302Arg) rs749003546 0.00006
NM_024570.4(RNASEH2B):c.137-19G>C rs201814710 0.00005
NM_024570.4(RNASEH2B):c.244+3A>G rs371461579 0.00005
NM_024570.4(RNASEH2B):c.327G>A (p.Lys109=) rs1444175430 0.00005
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln) rs145465454 0.00004
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) rs143523027 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.697A>C (p.Lys233Gln) rs774950202 0.00004
NM_024570.4(RNASEH2B):c.828T>C (p.Asn276=) rs950747194 0.00004
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn) rs200802557 0.00004
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile) rs1292841062 0.00003
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile) rs541903338 0.00003
NM_024570.4(RNASEH2B):c.240A>G (p.Gln80=) rs781187392 0.00003
NM_024570.4(RNASEH2B):c.244+12G>A rs772222915 0.00003
NM_024570.4(RNASEH2B):c.245-8A>G rs1057517815 0.00003
NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126 0.00003
NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr) rs199935006 0.00003
NM_024570.4(RNASEH2B):c.617-7C>G rs367604928 0.00003
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn) rs748144224 0.00003
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr) rs768415436 0.00003
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg) rs759251667 0.00002
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.440A>C (p.Asn147Thr) rs746633003 0.00002
NM_024570.4(RNASEH2B):c.511-4A>G rs1252856173 0.00002
NM_024570.4(RNASEH2B):c.555C>G (p.Val185=) rs566790226 0.00002
NM_024570.4(RNASEH2B):c.65-11T>C rs374358281 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024570.4(RNASEH2B):c.742-19C>T rs1311700795 0.00002
NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter) rs774043353 0.00002
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg) rs771560732 0.00002
NM_024570.4(RNASEH2B):c.*12T>C rs773052815 0.00001
NM_024570.4(RNASEH2B):c.*159A>G rs886050292 0.00001
NM_024570.4(RNASEH2B):c.*249T>C rs886050293 0.00001
NM_024570.4(RNASEH2B):c.*29A>G rs1200577478 0.00001
NM_024570.4(RNASEH2B):c.102G>A (p.Gly34=) rs764270783 0.00001
NM_024570.4(RNASEH2B):c.111T>G (p.Phe37Leu) rs1458234584 0.00001
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569 0.00001
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His) rs79564863 0.00001
NM_024570.4(RNASEH2B):c.129C>A (p.Pro43=) rs199839728 0.00001
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter) rs74876702 0.00001
NM_024570.4(RNASEH2B):c.136+8C>T rs891972892 0.00001
NM_024570.4(RNASEH2B):c.137-13T>G rs1364550699 0.00001
NM_024570.4(RNASEH2B):c.137-15G>T rs1406636563 0.00001
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val) rs1951648776 0.00001
NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=) rs2541495403 0.00001
NM_024570.4(RNASEH2B):c.153C>T (p.Tyr51=) rs772503413 0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter) rs75326546 0.00001
NM_024570.4(RNASEH2B):c.180G>C (p.Leu60=) rs556877869 0.00001
NM_024570.4(RNASEH2B):c.183T>C (p.Phe61=) rs368589166 0.00001
NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=) rs1271500392 0.00001
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val) rs1470036646 0.00001
NM_024570.4(RNASEH2B):c.231A>G (p.Gln77=) rs1454047013 0.00001
NM_024570.4(RNASEH2B):c.244+7G>A rs1593458121 0.00001
NM_024570.4(RNASEH2B):c.245-5T>C rs758538142 0.00001
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe) rs1262454987 0.00001
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met) rs959811072 0.00001
NM_024570.4(RNASEH2B):c.294C>T (p.Leu98=) rs968826871 0.00001
NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys) rs1951670203 0.00001
NM_024570.4(RNASEH2B):c.300C>T (p.Tyr100=) rs1467684524 0.00001
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val) rs761380890 0.00001
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382 0.00001
NM_024570.4(RNASEH2B):c.321+10C>T rs1321328863 0.00001
NM_024570.4(RNASEH2B):c.321+11A>G rs753571443 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.321+18A>T rs200935335 0.00001
NM_024570.4(RNASEH2B):c.321+20C>T rs757362657 0.00001
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=) rs1405304207 0.00001
NM_024570.4(RNASEH2B):c.322-17A>G rs1221359513 0.00001
NM_024570.4(RNASEH2B):c.322-18A>G rs1307534508 0.00001
NM_024570.4(RNASEH2B):c.322-2A>T rs772788079 0.00001
NM_024570.4(RNASEH2B):c.322-5T>G rs761515995 0.00001
NM_024570.4(RNASEH2B):c.324G>A (p.Gly108=) rs760734846 0.00001
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu) rs999474934 0.00001
NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys) rs751788888 0.00001
NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=) rs781310346 0.00001
NM_024570.4(RNASEH2B):c.387G>A (p.Leu129=) rs756682554 0.00001
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382 0.00001
NM_024570.4(RNASEH2B):c.420T>C (p.His140=) rs1951728058 0.00001
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala) rs1363075189 0.00001
NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val) rs200535256 0.00001
NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp) rs754434417 0.00001
NM_024570.4(RNASEH2B):c.437-20A>G rs779476919 0.00001
NM_024570.4(RNASEH2B):c.437-9T>C rs1028760869 0.00001
NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=) rs1420978283 0.00001
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902 0.00001
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile) rs79310911 0.00001
NM_024570.4(RNASEH2B):c.510+18T>C rs765819204 0.00001
NM_024570.4(RNASEH2B):c.510+1G>A rs77301371 0.00001
NM_024570.4(RNASEH2B):c.511-19C>A rs370913691 0.00001
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala) rs1593472446 0.00001
NM_024570.4(RNASEH2B):c.522T>C (p.Thr174=) rs200390483 0.00001
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly) rs759712178 0.00001
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp) rs765368182 0.00001
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr) rs555463211 0.00001
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu) rs1183556285 0.00001
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly) rs1015708068 0.00001
NM_024570.4(RNASEH2B):c.616+12A>G rs756300291 0.00001
NM_024570.4(RNASEH2B):c.616+13T>C rs1172906046 0.00001
NM_024570.4(RNASEH2B):c.616+16T>C rs1329814638 0.00001
NM_024570.4(RNASEH2B):c.616+5del rs1951890362 0.00001
NM_024570.4(RNASEH2B):c.617-11G>C rs201473333 0.00001
NM_024570.4(RNASEH2B):c.617-12del rs1297387999 0.00001
NM_024570.4(RNASEH2B):c.617-14T>C rs775702265 0.00001
NM_024570.4(RNASEH2B):c.617-2A>G rs751915137 0.00001
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala) rs371740577 0.00001
NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys) rs769632378 0.00001
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His) rs755705496 0.00001
NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg) rs200648780 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His) rs77391331 0.00001
NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr) rs747995413 0.00001
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu) rs746153565 0.00001
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=) rs1046177737 0.00001
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu) rs190327832 0.00001
NM_024570.4(RNASEH2B):c.741+20A>G rs375015766 0.00001
NM_024570.4(RNASEH2B):c.742-9A>G rs1952008392 0.00001
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala) rs2541543880 0.00001
NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val) rs1307271194 0.00001
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr) rs763308917 0.00001
NM_024570.4(RNASEH2B):c.822+16T>C rs750179605 0.00001
NM_024570.4(RNASEH2B):c.822+5G>A rs761333168 0.00001
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter) rs771472509 0.00001
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu) rs1395602025 0.00001
NM_024570.4(RNASEH2B):c.894T>C (p.Asp298=) rs1593481878 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser) rs780504013 0.00001
NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu) rs1462322143 0.00001
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr) rs542600186 0.00001
NM_024570.4(RNASEH2B):c.933G>A (p.Lys311=) rs951129269 0.00001
NC_000013.10:g.(?_51483926)_(51484277_51501542)del
NC_000013.10:g.(?_51484213)_(51484296_?)del
NC_000013.10:g.(?_51484213)_(51528141_?)del
NC_000013.10:g.(?_51484213)_(51530610_?)del
NC_000013.10:g.(?_51501523)_(51530610_?)del
NC_000013.10:g.(?_51503591)_(51530610_?)del
NC_000013.10:g.(?_51528021)_(51530610_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000013.11:g.50929475_50929477del rs2541495342
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) rs1428846232
NM_024570.4(RNASEH2B):c.*174C>T rs1952055649
NM_024570.4(RNASEH2B):c.*63G>T rs751735556
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile) rs1203866393
NM_024570.4(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=) rs2541491117
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs) rs2137925083
NM_024570.4(RNASEH2B):c.132T>C (p.Cys44=) rs74876702
NM_024570.4(RNASEH2B):c.136+10C>G rs766679026
NM_024570.4(RNASEH2B):c.136+15C>A rs2137925214
NM_024570.4(RNASEH2B):c.136+16A>G
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.137-10G>A rs761921568
NM_024570.4(RNASEH2B):c.137-11del rs1163774369
NM_024570.4(RNASEH2B):c.137-17_137-14del rs750984942
NM_024570.4(RNASEH2B):c.137-4A>C rs1300419181
NM_024570.4(RNASEH2B):c.137-8C>T rs1422431568
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu) rs1951648632
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe) rs35416748
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys) rs2541495437
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) rs1458407476
NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=) rs1156600861
NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=) rs2541495537
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=) rs2541495633
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys) rs1951650677
NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=) rs2541495746
NM_024570.4(RNASEH2B):c.234A>C (p.Ser78=) rs757200430
NM_024570.4(RNASEH2B):c.234A>G (p.Ser78=) rs757200430
NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg) rs1951651077
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala) rs1328842720
NM_024570.4(RNASEH2B):c.244+1G>A
NM_024570.4(RNASEH2B):c.244+2T>C
NM_024570.4(RNASEH2B):c.244+6T>C rs2541495885
NM_024570.4(RNASEH2B):c.245-12T>C rs1019503838
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.245-2A>C rs2541498472
NM_024570.4(RNASEH2B):c.245-2A>G rs2541498472
NM_024570.4(RNASEH2B):c.245-7T>C rs2541498450
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val) rs1951668772
NM_024570.4(RNASEH2B):c.268C>T (p.Pro90Ser)
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg) rs770203126
NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=) rs2541498617
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met) rs2137938188
NM_024570.4(RNASEH2B):c.288G>T (p.Leu96=) rs774041308
NM_024570.4(RNASEH2B):c.294C>A (p.Leu98=) rs968826871
NM_024570.4(RNASEH2B):c.318G>A (p.Lys106=) rs2541498733
NM_024570.4(RNASEH2B):c.321+12G>T rs1251325470
NM_024570.4(RNASEH2B):c.321+15C>G rs372703323
NM_024570.4(RNASEH2B):c.321+16G>C rs1490426503
NM_024570.4(RNASEH2B):c.321+16_321+17dup rs2541498808
NM_024570.4(RNASEH2B):c.321+18A>C rs200935335
NM_024570.4(RNASEH2B):c.322-10G>A rs2541505504
NM_024570.4(RNASEH2B):c.322-10_322-9del rs748279384
NM_024570.4(RNASEH2B):c.322-14A>G rs1445523982
NM_024570.4(RNASEH2B):c.322-14_322-11del rs1951726150
NM_024570.4(RNASEH2B):c.322-15T>C rs2137952113
NM_024570.4(RNASEH2B):c.322-15dup rs2541505493
NM_024570.4(RNASEH2B):c.322-18A>T rs1307534508
NM_024570.4(RNASEH2B):c.322-19C>A rs1951726082
NM_024570.4(RNASEH2B):c.322-3C>G rs767139201
NM_024570.4(RNASEH2B):c.322-4T>A rs1206184671
NM_024570.4(RNASEH2B):c.322-4del rs770781962
NM_024570.4(RNASEH2B):c.322-4dup rs770781962
NM_024570.4(RNASEH2B):c.322-5T>C rs761515995
NM_024570.4(RNASEH2B):c.322-9T>G rs2541505509
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
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=) rs1161911136
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) rs1363440628
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His) rs2541505611
NM_024570.4(RNASEH2B):c.352G>C (p.Val118Leu)
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu) rs753716315
NM_024570.4(RNASEH2B):c.354G>A (p.Val118=) rs1951726994
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met) rs764980431
NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu) rs764980431
NM_024570.4(RNASEH2B):c.371del (p.Asn124fs)
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.379T>C (p.Leu127=)
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr) rs780398368
NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=) rs2541505882
NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=) rs2541505919
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp) rs1951727784
NM_024570.4(RNASEH2B):c.408G>A (p.Lys136=) rs2541505948
NM_024570.4(RNASEH2B):c.426A>G (p.Thr142=) rs2137952831
NM_024570.4(RNASEH2B):c.429G>A (p.Glu143=)
NM_024570.4(RNASEH2B):c.436+10A>C rs2137952956
NM_024570.4(RNASEH2B):c.436+17A>C
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.436+6G>C rs1334165925
NM_024570.4(RNASEH2B):c.436+8A>G rs893847811
NM_024570.4(RNASEH2B):c.437-18T>A rs2541522118
NM_024570.4(RNASEH2B):c.437-1G>A rs777313709
NM_024570.4(RNASEH2B):c.437-5T>C rs1471869981
NM_024570.4(RNASEH2B):c.437-9del rs772054107
NM_024570.4(RNASEH2B):c.437-9dup rs772054107
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=) rs759529625
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys) rs2541522305
NM_024570.4(RNASEH2B):c.468C>G (p.Tyr156Ter)
NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=) rs775300215
NM_024570.4(RNASEH2B):c.474C>T (p.Tyr158=) rs2541522341
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn) rs76219783
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs) rs2137982729
NM_024570.4(RNASEH2B):c.483G>A (p.Glu161=) rs762711560
NM_024570.4(RNASEH2B):c.486G>A (p.Lys162=)
NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=) rs2541522383
NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs) rs1951857498
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.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs) rs1085307091
NM_024570.4(RNASEH2B):c.510+10C>T rs1234036058
NM_024570.4(RNASEH2B):c.510+12C>G rs755608455
NM_024570.4(RNASEH2B):c.510+12C>T rs755608455
NM_024570.4(RNASEH2B):c.510+13T>C rs2541522497
NM_024570.4(RNASEH2B):c.510+17G>A rs2541522514
NM_024570.4(RNASEH2B):c.510+19G>A rs2541522521
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.510+3A>G rs1387848478
NM_024570.4(RNASEH2B):c.510+6G>T rs1951858134
NM_024570.4(RNASEH2B):c.510+7T>G rs1030880550
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=) rs2137982984
NM_024570.4(RNASEH2B):c.511-16C>T rs1183774490
NM_024570.4(RNASEH2B):c.511-18C>A rs769769085
NM_024570.4(RNASEH2B):c.511-1G>A rs944032875
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA rs2541526313
NM_024570.4(RNASEH2B):c.511-4A>T rs1252856173
NM_024570.4(RNASEH2B):c.511-5C>A rs2137990410
NM_024570.4(RNASEH2B):c.511-9G>A rs2137990398
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile) rs902917241
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=) rs768340427
NM_024570.4(RNASEH2B):c.531A>G (p.Ala177=) rs2137990642
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser) rs1951888592
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu) rs1951889253
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile) rs952690776
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr) rs2137990955
NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=) rs2541526671
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys) rs745471919
NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=) rs2541526742
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr) rs1426381002
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro) rs2137991056
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His) rs2541526787
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu) rs1951889997
NM_024570.4(RNASEH2B):c.616+10G>A rs2541526893
NM_024570.4(RNASEH2B):c.616+10G>T rs2541526893
NM_024570.4(RNASEH2B):c.616+2dup rs2541526849
NM_024570.4(RNASEH2B):c.616+9dup rs2541526876
NM_024570.4(RNASEH2B):c.617-11G>A rs201473333
NM_024570.4(RNASEH2B):c.617-14_617-12del rs1804734892
NM_024570.4(RNASEH2B):c.617-17_617-15del rs781083153
NM_024570.4(RNASEH2B):c.617-19C>T rs1396030018
NM_024570.4(RNASEH2B):c.617-6T>A rs2541531431
NM_024570.4(RNASEH2B):c.617-9_617-8del rs1951926361
NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) rs1593474848
NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys) rs2138000084
NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His) rs1951926945
NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln) rs1265842301
NM_024570.4(RNASEH2B):c.639T>C (p.His213=) rs1265842301
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp) rs977521667
NM_024570.4(RNASEH2B):c.645G>A (p.Leu215=) rs376122649
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs) rs2541531608
NM_024570.4(RNASEH2B):c.65-13G>C rs1176797481
NM_024570.4(RNASEH2B):c.65-18T>A rs2137924729
NM_024570.4(RNASEH2B):c.65-19A>G rs2137924712
NM_024570.4(RNASEH2B):c.65-1G>A rs2541490868
NM_024570.4(RNASEH2B):c.65-2A>G
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val) rs770138442
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro) rs768565639
NM_024570.4(RNASEH2B):c.698+13T>A rs762157181
NM_024570.4(RNASEH2B):c.698+14A>G rs2541531847
NM_024570.4(RNASEH2B):c.698+16C>A rs2541531856
NM_024570.4(RNASEH2B):c.698+19C>T
NM_024570.4(RNASEH2B):c.698+1G>C rs367915667
NM_024570.4(RNASEH2B):c.699-10A>T rs2541534962
NM_024570.4(RNASEH2B):c.699-11A>G rs886050290
NM_024570.4(RNASEH2B):c.699-20G>A rs749427005
NM_024570.4(RNASEH2B):c.699-4T>G
NM_024570.4(RNASEH2B):c.699-6T>C rs2541534971
NM_024570.4(RNASEH2B):c.699-9C>G rs2138005108
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter) rs778329909
NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=) rs2541535011
NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=) rs774234566
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser) rs2541535046
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu) rs372632599
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe) rs1593476321
NM_024570.4(RNASEH2B):c.72A>G (p.Leu24=) rs748052389
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe) rs748052389
NM_024570.4(RNASEH2B):c.735A>G (p.Pro245=) rs2541535089
NM_024570.4(RNASEH2B):c.741+11G>A rs1180349260
NM_024570.4(RNASEH2B):c.741+6A>G rs2541535101
NM_024570.4(RNASEH2B):c.741+8G>A rs2541535106
NM_024570.4(RNASEH2B):c.741+8G>T rs2541535106
NM_024570.4(RNASEH2B):c.742-12C>T rs779113809
NM_024570.4(RNASEH2B):c.742-13T>C rs1208230635
NM_024570.4(RNASEH2B):c.742-15G>T rs2138019958
NM_024570.4(RNASEH2B):c.742-1_742delinsAC rs2541543792
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly) rs1951613237
NM_024570.4(RNASEH2B):c.783T>C (p.Asp261=) rs1432063381
NM_024570.4(RNASEH2B):c.789T>C (p.Thr263=) rs2541543945
NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=) rs1163056126
NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=) rs1952009853
NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=) rs2541544009
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val) rs763654606
NM_024570.4(RNASEH2B):c.820_821insCA (p.Lys274fs)
NM_024570.4(RNASEH2B):c.822+13A>G
NM_024570.4(RNASEH2B):c.822+14G>A rs1043966687
NM_024570.4(RNASEH2B):c.822+15G>A rs767399621
NM_024570.4(RNASEH2B):c.822+15G>T rs767399621
NM_024570.4(RNASEH2B):c.822+18T>C rs2541544099
NM_024570.4(RNASEH2B):c.822+8G>A rs757200421
NM_024570.4(RNASEH2B):c.822+9G>A rs2541544079
NM_024570.4(RNASEH2B):c.823-13T>A rs2541548108
NM_024570.4(RNASEH2B):c.823-13T>C rs2541548108
NM_024570.4(RNASEH2B):c.823-17C>T rs773982703
NM_024570.4(RNASEH2B):c.823-18T>G rs2541548085
NM_024570.4(RNASEH2B):c.823-18_823-15del rs2138027024
NM_024570.4(RNASEH2B):c.823-19C>G rs2541548079
NM_024570.4(RNASEH2B):c.823-5A>G rs2541548138
NM_024570.4(RNASEH2B):c.823-6del rs2541548132
NM_024570.4(RNASEH2B):c.823-8A>T
NM_024570.4(RNASEH2B):c.823-9C>A rs2541548116
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs) rs746868812
NM_024570.4(RNASEH2B):c.831C>T (p.Ser277=) rs2138027156
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro) rs2138027194
NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=) rs2541548267
NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=) rs760409807
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His) rs1245790711
NM_024570.4(RNASEH2B):c.855T>A (p.Ala285=)
NM_024570.4(RNASEH2B):c.856T>C (p.Leu286=) rs2541548349
NM_024570.4(RNASEH2B):c.858G>A (p.Leu286=) rs1404049179
NM_024570.4(RNASEH2B):c.867T>A (p.Val289=) rs2541548415
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del) rs776706264
NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=) rs2541548443
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr) rs2541548494
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile) rs1471999282
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His) rs2138027653
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs) rs1566091633
NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs) rs2138027647
NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.926T>A (p.Ile309Asn)
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs) rs1952051723
NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=) rs775880092
NM_024570.4(RNASEH2B):c.98dup (p.Asn33fs)

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