ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 359
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_032193.4(RNASEH2C):c.*1007C>G rs112903919 0.01000
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_032193.4(RNASEH2C):c.*1699G>C rs149989742 0.00233
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.*1594G>A rs761492773 0.00113
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_032193.4(RNASEH2C):c.*295C>T rs538167829 0.00067
NM_032193.4(RNASEH2C):c.*456G>A rs561937926 0.00053
NM_032193.4(RNASEH2C):c.*363C>T rs547082810 0.00040
NM_032193.4(RNASEH2C):c.*1737C>T rs886048487 0.00029
NM_032193.4(RNASEH2C):c.393G>A (p.Leu131=) rs138181714 0.00024
NM_032193.4(RNASEH2C):c.*1977C>T rs886048482 0.00018
NM_032193.4(RNASEH2C):c.*385C>A rs757672652 0.00017
NM_032193.4(RNASEH2C):c.*440G>C rs544558074 0.00016
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_032193.4(RNASEH2C):c.348+18G>A rs372964595 0.00016
NM_032193.4(RNASEH2C):c.*747G>A rs201326733 0.00015
NM_032193.4(RNASEH2C):c.*1658G>C rs886048488 0.00013
NM_032193.4(RNASEH2C):c.349-12C>G rs368723275 0.00008
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val) rs145783593 0.00008
NM_032193.3(RNASEH2C):c.-186A>C rs931060333 0.00007
NM_032193.4(RNASEH2C):c.*1621A>G rs373799308 0.00007
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_032193.4(RNASEH2C):c.*1532G>A rs376966597 0.00005
NM_032193.4(RNASEH2C):c.*541C>T rs756513194 0.00005
NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=) rs749020058 0.00005
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn) rs773527127 0.00004
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile) rs764887792 0.00004
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe) rs779295406 0.00004
NM_032193.4(RNASEH2C):c.349-16C>T rs199868316 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032193.4(RNASEH2C):c.*29A>G rs886048499 0.00003
NM_032193.4(RNASEH2C):c.459T>C (p.Leu153=) rs771390677 0.00003
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=) rs376140250 0.00003
NM_032193.3(RNASEH2C):c.-139G>T rs928515689 0.00002
NM_032193.4(RNASEH2C):c.*1504G>A rs886048489 0.00002
NM_032193.4(RNASEH2C):c.*1778C>G rs886048485 0.00002
NM_032193.4(RNASEH2C):c.*223G>A rs886048497 0.00002
NM_032193.4(RNASEH2C):c.*572C>T rs200332583 0.00002
NM_032193.4(RNASEH2C):c.*940A>G rs767097041 0.00002
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys) rs1453336065 0.00002
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys) rs769127379 0.00002
NM_032193.4(RNASEH2C):c.172+12G>A rs1169841008 0.00002
NM_032193.4(RNASEH2C):c.348+6C>T rs779293116 0.00002
NM_032193.4(RNASEH2C):c.349-6C>T rs774542613 0.00002
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00002
NM_032193.4(RNASEH2C):c.*178C>G rs3180585 0.00001
NM_032193.4(RNASEH2C):c.*27C>G rs886048500 0.00001
NM_032193.4(RNASEH2C):c.*374T>G rs533143132 0.00001
NM_032193.4(RNASEH2C):c.*719T>G rs886048492 0.00001
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly) rs374512840 0.00001
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg) rs1857363681 0.00001
NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=) rs1324205598 0.00001
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr) rs912731829 0.00001
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu) rs1310807864 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.198C>T (p.Arg66=) rs200792226 0.00001
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val) rs767413437 0.00001
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val) rs1284081456 0.00001
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met) rs1857352830 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 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.348+1G>A rs747248530 0.00001
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val) rs751248914 0.00001
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser) rs143452727 0.00001
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys) rs1426277096 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.455G>A (p.Ser152Asn) rs781376271 0.00001
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr) rs757866333 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.472C>T (p.His158Tyr) rs759118175 0.00001
NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=) rs373524507 0.00001
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly) rs771823743 0.00001
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe) rs1261921914 0.00001
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile) rs1234973794 0.00001
NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=) rs1419001598 0.00001
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu) rs11557810 0.00001
NC_000011.10:g.65720153_65720165del
NC_000011.9:g.(?_64973914)_(70052579_?)dup
NC_000011.9:g.(?_65325080)_(65639825_?)del
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.4(RNASEH2C):c.*1217G>C rs886048490
NM_032193.4(RNASEH2C):c.*1378G>C rs746434462
NM_032193.4(RNASEH2C):c.*1768C>T rs886048486
NM_032193.4(RNASEH2C):c.*1806G>A rs886048484
NM_032193.4(RNASEH2C):c.*1831G>A rs886048483
NM_032193.4(RNASEH2C):c.*310C>T rs190723966
NM_032193.4(RNASEH2C):c.*451C>T rs886048496
NM_032193.4(RNASEH2C):c.*532C>G rs886048495
NM_032193.4(RNASEH2C):c.*560C>T rs886048494
NM_032193.4(RNASEH2C):c.*706T>A rs886048493
NM_032193.4(RNASEH2C):c.*78A>G rs1857332269
NM_032193.4(RNASEH2C):c.*862A>C rs886048491
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.-27G>T rs549471118
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr) rs1857361152
NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp) rs759651650
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser) rs1857363681
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=) rs2135654177
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)
NM_032193.4(RNASEH2C):c.122C>T (p.Pro41Leu)
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.130G>C (p.Val44Leu)
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys) rs1194474428
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu) rs2135654103
NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)
NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=) rs1857359996
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu) rs1857359953
NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)
NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=) rs2135654018
NM_032193.4(RNASEH2C):c.15C>T (p.Asp5=)
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val) rs1233458293
NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala) rs1857359394
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+5G>A rs781232402
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>G rs886048501
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.175C>G (p.Leu59Val)
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
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.193G>A (p.Gly65Ser)
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys) rs2135653318
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
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.223G>C (p.Val75Leu)
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro) rs2135654514
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val) rs1857352526
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.244T>C (p.Tyr82His)
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys) rs2135653148
NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=)
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_032193.4(RNASEH2C):c.249G>A (p.Val83=)
NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=)
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
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.259G>A (p.Glu87Lys)
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp) rs1857351791
NM_032193.4(RNASEH2C):c.261A>G (p.Glu87=) rs1857351791
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032193.4(RNASEH2C):c.267G>A (p.Lys89=)
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr) rs772347588
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
NM_032193.4(RNASEH2C):c.27C>T (p.Ile9=)
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn) rs771160923
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala) rs148186114
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.294C>T (p.Pro98=)
NM_032193.4(RNASEH2C):c.295T>C (p.Leu99=)
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe) rs1390405064
NM_032193.4(RNASEH2C):c.306C>T (p.Ser102=)
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) rs766900205
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.309G>A (p.Gly103=)
NM_032193.4(RNASEH2C):c.309G>C (p.Gly103=)
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile) rs1318717066
NM_032193.4(RNASEH2C):c.315C>T (p.Asp105=)
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn) rs1379430577
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly) rs1857363170
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
NM_032193.4(RNASEH2C):c.324G>A (p.Glu108=)
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys) rs759057632
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu) rs113396656
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.343G>A (p.Asp115Asn)
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.348C>G (p.Phe116Leu) rs1314714026
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.349G>C (p.Asp117His)
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu) rs2135652511
NM_032193.4(RNASEH2C):c.357C>T (p.Phe119=)
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro) rs765558776
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
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.37del (p.Arg13fs)
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.398G>A (p.Gly133Asp) rs2135652409
NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
NM_032193.4(RNASEH2C):c.402G>A (p.Leu134=)
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032193.4(RNASEH2C):c.405G>A (p.Glu135=)
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
NM_032193.4(RNASEH2C):c.411C>T (p.Ile137=)
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser) rs77834781
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
NM_032193.4(RNASEH2C):c.420G>A (p.Pro140=)
NM_032193.4(RNASEH2C):c.420G>T (p.Pro140=)
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly) rs1857345402
NM_032193.4(RNASEH2C):c.426C>T (p.Ala142=) rs753557040
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.4(RNASEH2C):c.435T>C (p.Arg145=)
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
NM_032193.4(RNASEH2C):c.438G>A (p.Gly146=)
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr) rs1388954201
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp) rs759644653
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val) rs2135652251
NM_032193.4(RNASEH2C):c.441C>G (p.Ala147=) rs1857344657
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
NM_032193.4(RNASEH2C):c.447T>C (p.Thr149=)
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) rs1064793942
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser) rs78464826
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu) rs2135652204
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) rs781376271
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+5G>A rs753880827
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
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.469-14_469-9del
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.470T>A (p.Ile157Asn)
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
NM_032193.4(RNASEH2C):c.474C>T (p.His158=)
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala) rs2135651271
NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)
NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) rs1857362640
NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)
NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
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.70G>T (p.Ala24Ser) rs2135654326
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
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>G (p.Leu29Val)
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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