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: 400
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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 0.00118
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 0.00029
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.564G>C (p.Arg188=) rs141367253 0.00011
NM_024570.4(RNASEH2B):c.549G>A (p.Val183=) rs760862553 0.00010
NM_024570.4(RNASEH2B):c.*76T>A rs750903767 0.00009
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) rs138649673 0.00009
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) rs143523027 0.00008
NM_024570.4(RNASEH2B):c.822+16T>C rs750179605 0.00007
NM_024570.4(RNASEH2B):c.244+3A>G rs371461579 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.734C>T (p.Pro245Leu) rs190327832 0.00005
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile) rs541903338 0.00004
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln) rs145465454 0.00004
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.697A>C (p.Lys233Gln) rs774950202 0.00004
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn) rs748144224 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.240A>G (p.Gln80=) rs781187392 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.440A>C (p.Asn147Thr) rs746633003 0.00003
NM_024570.4(RNASEH2B):c.617-7C>G rs367604928 0.00003
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr) rs768415436 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.511-4A>G rs1252856173 0.00002
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala) rs371740577 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.905G>A (p.Gly302Glu) rs1462322143 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.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.137-15G>T rs1406636563 0.00001
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val) rs1951648776 0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter) rs75326546 0.00001
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg) rs759251667 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.253C>T (p.Leu85Phe) rs1262454987 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+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.330T>G (p.Phe110Leu) rs999474934 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.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.437-1G>A rs777313709 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.562C>T (p.Arg188Trp) rs765368182 0.00001
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr) rs555463211 0.00001
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly) rs1015708068 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.628C>T (p.Arg210Cys) rs769632378 0.00001
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His) rs755705496 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 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.782A>T (p.Asp261Val) rs1307271194 0.00001
NM_024570.4(RNASEH2B):c.822+5G>A rs761333168 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.895A>G (p.Thr299Ala) rs370507842 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.92T>C (p.Met31Thr) rs542600186 0.00001
NM_024570.4(RNASEH2B):c.933G>A (p.Lys311=) rs951129269 0.00001
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
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)
NM_024570.4(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=)
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs) rs2137925083
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.136+1del rs75186889
NM_024570.4(RNASEH2B):c.137-10G>A
NM_024570.4(RNASEH2B):c.137-11del rs1163774369
NM_024570.4(RNASEH2B):c.137-13T>G
NM_024570.4(RNASEH2B):c.137-17_137-14del
NM_024570.4(RNASEH2B):c.137-4A>C
NM_024570.4(RNASEH2B):c.137-8C>T
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu) rs1951648632
NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=)
NM_024570.4(RNASEH2B):c.153C>T (p.Tyr51=) rs772503413
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) rs1458407476
NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=)
NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=)
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.180G>C (p.Leu60=) rs556877869
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=)
NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=)
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys) rs1951650677
NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
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.239A>G (p.Gln80Arg) rs1951651077
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala) rs1328842720
NM_024570.4(RNASEH2B):c.244+12G>A
NM_024570.4(RNASEH2B):c.244+6T>C
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.245-2A>C
NM_024570.4(RNASEH2B):c.245-2A>G
NM_024570.4(RNASEH2B):c.245-5T>C
NM_024570.4(RNASEH2B):c.245-7T>C
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val) rs1951668772
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=)
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met) rs2137938188
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.299A>G (p.Tyr100Cys)
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.321G>A (p.Glu107=)
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.322-17A>G
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.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.322-4T>A rs1206184671
NM_024570.4(RNASEH2B):c.322-4del
NM_024570.4(RNASEH2B):c.322-4dup rs770781962
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.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=)
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) rs1363440628
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
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.365T>G (p.Phe122Cys)
NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr) rs780398368
NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=)
NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=)
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp) rs1951727784
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+1G>A rs80087649
NM_024570.4(RNASEH2B):c.436+6G>C
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.437-9del rs772054107
NM_024570.4(RNASEH2B):c.437-9dup rs772054107
NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=)
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=)
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)
NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=)
NM_024570.4(RNASEH2B):c.474C>T (p.Tyr158=)
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=)
NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=)
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)
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+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
NM_024570.4(RNASEH2B):c.511-18C>A
NM_024570.4(RNASEH2B):c.511-19C>A
NM_024570.4(RNASEH2B):c.511-1G>A
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
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.520A>G (p.Thr174Ala)
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile) rs902917241
NM_024570.4(RNASEH2B):c.522T>C (p.Thr174=) rs200390483
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.555C>G (p.Val185=)
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu) rs1951889253
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr) rs2137990955
NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=)
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys) rs745471919
NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=)
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro) rs2137991056
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu) rs1951889997
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+2dup
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.617-2A>G
NM_024570.4(RNASEH2B):c.617-6T>A
NM_024570.4(RNASEH2B):c.617-9_617-8del
NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)
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.638A>G (p.His213Arg) rs200648780
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=)
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
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.65-1G>A
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His) rs77391331
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro) rs768565639
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.698+1G>C
NM_024570.4(RNASEH2B):c.699-10A>T
NM_024570.4(RNASEH2B):c.699-11A>G rs886050290
NM_024570.4(RNASEH2B):c.699-20G>A rs749427005
NM_024570.4(RNASEH2B):c.699-6T>C
NM_024570.4(RNASEH2B):c.699-9C>G rs2138005108
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=)
NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=)
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu) rs372632599
NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=)
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
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=)
NM_024570.4(RNASEH2B):c.741+11G>A
NM_024570.4(RNASEH2B):c.741+20A>G
NM_024570.4(RNASEH2B):c.741+6A>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.742-1_742delinsAC
NM_024570.4(RNASEH2B):c.742-9A>G rs1952008392
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
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=)
NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=)
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=)
NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=)
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)
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.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.83C>G (p.Ser28Ter)
NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=)
NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=)
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
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.86AGA[1] (p.Lys30del) rs776706264
NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=)
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His) rs2138027653
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)
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.929del (p.Gly310fs) rs1952051723
NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=)

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