ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 344
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.102+151A>G rs6089953 0.82106
NM_001283009.2(RTEL1):c.538+160A>T rs6010998 0.81932
NM_001283009.2(RTEL1):c.395+164T>C rs2297433 0.81920
NM_001283009.2(RTEL1):c.700-287T>G rs6011018 0.81882
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.1191+227T>C rs2297440 0.81471
NM_001283009.2(RTEL1):c.1349-135G>C rs6062490 0.81468
NM_001283009.2(RTEL1):c.1596-28T>C rs2738785 0.81463
NM_001283009.2(RTEL1):c.1038-104G>A rs2297438 0.80871
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_001283009.2(RTEL1):c.1192-242T>G rs3787088 0.70004
NM_001283009.2(RTEL1):c.1192-246C>T rs3787089 0.69900
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_001283009.2(RTEL1):c.477+35C>T rs2297434 0.45720
NM_001283009.2(RTEL1):c.765+204G>C rs2297436 0.44985
NM_001283009.2(RTEL1):c.700-115G>A rs6062300 0.44984
NM_001283009.2(RTEL1):c.2992+197T>A rs13040931 0.29051
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_001283009.2(RTEL1):c.2992+215T>A rs533321579 0.14619
NM_001283009.2(RTEL1):c.1636+29C>G rs2777940 0.14402
NM_001283009.2(RTEL1):c.1801-166G>A rs6062492 0.11905
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_001283009.2(RTEL1):c.103-242T>C rs73920920 0.08700
NM_001283009.2(RTEL1):c.1038-239C>T rs62207047 0.08633
NM_001283009.2(RTEL1):c.1038-73T>C rs77552606 0.07313
NM_001283009.2(RTEL1):c.1038-74T>G rs2297439 0.07306
NM_001283009.2(RTEL1):c.1192-42G>T rs75451331 0.07066
NM_001283009.2(RTEL1):c.1482-82_1482-80dup rs143664886 0.06858
NM_001283009.2(RTEL1):c.302-85C>T rs41308088 0.06766
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001283009.2(RTEL1):c.2653-151T>C rs78904323 0.06344
NM_001283009.2(RTEL1):c.2992+182A>T rs796580003 0.06244
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
NM_001283009.2(RTEL1):c.700-106G>T rs6011019 0.05862
NM_001283009.2(RTEL1):c.765+86G>C rs7260740 0.05840
NM_001283009.2(RTEL1):c.765+87G>T rs7260741 0.05838
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_001283009.2(RTEL1):c.1135+78G>A rs41309933 0.05775
NM_001283009.2(RTEL1):c.103-204G>A rs75526725 0.05764
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
NM_001283009.2(RTEL1):c.478-88T>C rs12481716 0.05764
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_001283009.2(RTEL1):c.615-36G>A rs60072991 0.05123
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_001283009.2(RTEL1):c.-59A>C rs13043797 0.04019
NM_001283009.2(RTEL1):c.478-24C>T rs45523833 0.03686
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_001283009.2(RTEL1):c.2556+59C>T rs75757504 0.03025
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001283009.2(RTEL1):c.2851+48C>T rs117238689 0.02767
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_001283009.2(RTEL1):c.2026-30C>T rs143200080 0.02385
NM_001283009.2(RTEL1):c.2653-192C>T rs8118389 0.02326
NM_001283009.2(RTEL1):c.477+43G>A rs73920922 0.02252
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_001283009.2(RTEL1):c.1191+266G>T rs142614912 0.01257
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_001283009.2(RTEL1):c.1801-210T>G rs181126102 0.01188
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_001283009.2(RTEL1):c.2993-113G>A rs75406933 0.01134
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_001283009.2(RTEL1):c.478-52C>T rs73920923 0.01100
NM_001283009.2(RTEL1):c.766-194A>G rs76214594 0.01001
NM_001283009.2(RTEL1):c.2992+206A>T rs1245436523 0.00996
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_001283009.2(RTEL1):c.3109+95G>C rs140351957 0.00792
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_001283009.2(RTEL1):c.2852-16G>A rs143229960 0.00649
NM_001283009.2(RTEL1):c.2992+37C>T rs139133112 0.00585
NM_001283009.2(RTEL1):c.1801-147C>T rs111819923 0.00583
NM_001283009.2(RTEL1):c.*223T>A rs149177736 0.00568
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_001283009.2(RTEL1):c.919+311A>G rs186506818 0.00563
NM_001283009.2(RTEL1):c.3343+34G>C rs182518802 0.00492
NM_001283009.2(RTEL1):c.1800+14C>T rs150377952 0.00456
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_001283009.2(RTEL1):c.*21C>T rs73319713 0.00426
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_001283009.2(RTEL1):c.3110-17T>C rs192060579 0.00373
NM_001283009.2(RTEL1):c.2653-250C>T rs146442002 0.00363
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001283009.2(RTEL1):c.2851+22A>C rs183229024 0.00309
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_001283009.2(RTEL1):c.2992+146T>A rs764405651 0.00179
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=) rs143740470 0.00035
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=) rs142058793 0.00032
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu) rs141782041 0.00031
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00026
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp) rs373874416 0.00010
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val) rs200933423 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=) rs757231662 0.00008
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met) rs143317975 0.00006
NM_001283009.2(RTEL1):c.3273C>T (p.Asp1091=) rs528125869 0.00006
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_001283009.2(RTEL1):c.396-68C>T rs773832819 0.00006
NM_001283009.2(RTEL1):c.1135C>T (p.Arg379Cys) rs201938707 0.00005
NM_001283009.2(RTEL1):c.1863G>A (p.Ala621=) rs553627522 0.00005
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg) rs369064972 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001283009.2(RTEL1):c.1443G>A (p.Thr481=) rs762716598 0.00004
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn) rs371161995 0.00004
NM_001283009.2(RTEL1):c.2061G>A (p.Ala687=) rs201842671 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met) rs201560152 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met) rs372852392 0.00004
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=) rs763882822 0.00004
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00003
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln) rs141423196 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln) rs761907604 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.396-27T>C rs774523585 0.00003
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn) rs1036504358 0.00003
NM_001283009.2(RTEL1):c.901G>A (p.Ala301Thr) rs201365106 0.00003
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.2154C>T (p.Ala718=) rs149899386 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys) rs762640318 0.00002
NM_001283009.2(RTEL1):c.3438G>A (p.Pro1146=) rs770920450 0.00002
NM_001283009.2(RTEL1):c.3701C>T (p.Pro1234Leu) rs537878959 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn) rs773592856 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys) rs747831615 0.00001
NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr) rs371721039 0.00001
NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=) rs2090805113 0.00001
NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg) rs1340326956 0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val) rs569586118 0.00001
NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr) rs1368646805 0.00001
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=) rs753147923 0.00001
NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser) rs368303890 0.00001
NM_001283009.2(RTEL1):c.3213G>A (p.Leu1071=) rs1209413497 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=) rs749496657 0.00001
NM_001283009.2(RTEL1):c.3447G>C (p.Gln1149His) rs969247050 0.00001
NM_001283009.2(RTEL1):c.3475C>T (p.Leu1159Phe) rs1267571923 0.00001
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg) rs769538947 0.00001
NM_001283009.2(RTEL1):c.3823-13G>A rs879061607 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile) rs184051277 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn) rs776356655 0.00001
NM_001283009.2(RTEL1):c.714C>T (p.His238=) rs372078666 0.00001
NM_001283009.2(RTEL1):c.-93C>T rs2297432
NM_001283009.2(RTEL1):c.102+91G>A
NM_001283009.2(RTEL1):c.1037+140A>G rs6010620
NM_001283009.2(RTEL1):c.1037+240GAACAGCACACACACTCCCAC[4] rs749785638
NM_001283009.2(RTEL1):c.1074G>A (p.Thr358=) rs375256851
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
NM_001283009.2(RTEL1):c.1126C>G (p.Leu376Val)
NM_001283009.2(RTEL1):c.1132G>A (p.Gly378Arg) rs1433490184
NM_001283009.2(RTEL1):c.118C>G (p.Leu40Val)
NM_001283009.2(RTEL1):c.1250C>T (p.Ala417Val)
NM_001283009.2(RTEL1):c.1256A>G (p.Gln419Arg)
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1349-14_1349-13delinsTT rs2145419536
NM_001283009.2(RTEL1):c.1405C>A (p.Arg469Ser) rs369940581
NM_001283009.2(RTEL1):c.146C>G (p.Thr49Arg)
NM_001283009.2(RTEL1):c.1481+44_1481+45insTT rs111622789
NM_001283009.2(RTEL1):c.1540G>C (p.Gly514Arg)
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile) rs1246091092
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.1637-50A>C rs2777941
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
NM_001283009.2(RTEL1):c.1664G>C (p.Gly555Ala)
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.1725C>T (p.Ala575=) rs375696298
NM_001283009.2(RTEL1):c.1753C>G (p.Leu585Val)
NM_001283009.2(RTEL1):c.1800+40G>A rs201714226
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1949dup (p.Arg651fs)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1995G>C (p.Glu665Asp)
NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2086G>A (p.Gly696Arg) rs760108811
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2227C>G (p.Arg743Gly)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2249G>A (p.Arg750His) rs758667681
NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala) rs1601171438
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
NM_001283009.2(RTEL1):c.2556+260G>C rs73318002
NM_001283009.2(RTEL1):c.2557-199C>T rs80132799
NM_001283009.2(RTEL1):c.2557-89G>C rs2236507
NM_001283009.2(RTEL1):c.2600C>A (p.Pro867Gln) rs139083375
NM_001283009.2(RTEL1):c.2621G>A (p.Gly874Glu)
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.2647C>T (p.His883Tyr)
NM_001283009.2(RTEL1):c.2653-87C>T
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
NM_001283009.2(RTEL1):c.2722A>T (p.Ser908Cys) rs2090787000
NM_001283009.2(RTEL1):c.2779G>A (p.Asp927Asn)
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr) rs1263651818
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2889G>C (p.Gln963His) rs1274218203
NM_001283009.2(RTEL1):c.2889G>T (p.Gln963His) rs1274218203
NM_001283009.2(RTEL1):c.2908C>T (p.Gln970Ter)
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp) rs2145449091
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe) rs750109305
NM_001283009.2(RTEL1):c.2969C>T (p.Ala990Val) rs370171864
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg) rs143967591
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2992+162G>C rs1386233814
NM_001283009.2(RTEL1):c.2992+165G>C rs1446760941
NM_001283009.2(RTEL1):c.2992+178_2992+179insACCTCCACCACCACCACCTCCACC rs1379959287
NM_001283009.2(RTEL1):c.2992+179_2992+181del rs373703233
NM_001283009.2(RTEL1):c.2992+179_2992+187del rs774086034
NM_001283009.2(RTEL1):c.2992+179_2992+193del rs1568719939
NM_001283009.2(RTEL1):c.2992+180C>T rs113911531
NM_001283009.2(RTEL1):c.2992+185_2992+187del rs370553074
NM_001283009.2(RTEL1):c.2992+185_2992+199del rs1300101331
NM_001283009.2(RTEL1):c.2992+191T>A rs13040927
NM_001283009.2(RTEL1):c.2992+191_2992+199del rs1568720067
NM_001283009.2(RTEL1):c.2992+203A>T rs77599720
NM_001283009.2(RTEL1):c.2992+209_2992+211del rs1568720268
NM_001283009.2(RTEL1):c.2992+215_2992+232del rs1568720326
NM_001283009.2(RTEL1):c.2992+216CCA[2] rs1568720358
NM_001283009.2(RTEL1):c.2992+221A>T rs546697944
NM_001283009.2(RTEL1):c.2992+221_2992+226del rs1568720358
NM_001283009.2(RTEL1):c.2992+230T>A rs13040948
NM_001283009.2(RTEL1):c.2992+233A>T rs975452259
NM_001283009.2(RTEL1):c.2992+251A>T rs13036920
NM_001283009.2(RTEL1):c.2992+254A>T rs538526791
NM_001283009.2(RTEL1):c.2992+260A>T rs13036929
NM_001283009.2(RTEL1):c.2992+263A>T rs540180994
NM_001283009.2(RTEL1):c.2992+266A>T rs553498456
NM_001283009.2(RTEL1):c.2993-34C>T rs528710897
NM_001283009.2(RTEL1):c.3006G>A (p.Pro1002=) rs201351158
NM_001283009.2(RTEL1):c.3051C>A (p.Asp1017Glu)
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3081C>T (p.Pro1027=) rs1601194720
NM_001283009.2(RTEL1):c.3109+1G>C rs2145471794
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
NM_001283009.2(RTEL1):c.3310A>C (p.Thr1104Pro) rs762872907
NM_001283009.2(RTEL1):c.3315A>G (p.Ala1105=) rs1601197253
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
NM_001283009.2(RTEL1):c.3546G>C (p.Ser1182=) rs774018403
NM_001283009.2(RTEL1):c.359C>G (p.Thr120Arg) rs1006840042
NM_001283009.2(RTEL1):c.3619G>A (p.Gly1207Arg)
NM_001283009.2(RTEL1):c.3635C>T (p.Pro1212Leu)
NM_001283009.2(RTEL1):c.3642A>G (p.Ala1214=) rs1228117671
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3675C>T (p.Ile1225=)
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser) rs371373011
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu) rs376313219
NM_001283009.2(RTEL1):c.3804C>T (p.Cys1268=) rs1601200869
NM_001283009.2(RTEL1):c.3808C>T (p.Gln1270Ter) rs751235783
NM_001283009.2(RTEL1):c.395+232C>T rs73317948
NM_001283009.2(RTEL1):c.396-7C>T
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
NM_001283009.2(RTEL1):c.464G>A (p.Ser155Asn)
NM_001283009.2(RTEL1):c.477+19G>A rs6010997
NM_001283009.2(RTEL1):c.477+82G>A rs12480249
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
NM_001283009.2(RTEL1):c.5C>A (p.Pro2His)
NM_001283009.2(RTEL1):c.614+124C>T rs7273977
NM_001283009.2(RTEL1):c.615-149C>G rs7261546
NM_001283009.2(RTEL1):c.704G>A (p.Arg235His) rs549397879
NM_001283009.2(RTEL1):c.731G>A (p.Gly244Glu) rs2146193321
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=) rs748518636
NM_001283009.2(RTEL1):c.765+140G>C rs56010802
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.919+94_919+95insTGTTCATAGCCAGGCTGCTTGGTCCTGAGGCCCGCGCTGCTGCAGGGTGAGCCCCACCCGGAGTTCAGCACGGACTCCCCCAGCCCAGGTG rs2146198389
NM_001283009.2(RTEL1):c.920-106T>C rs114703330
NM_001283009.2(RTEL1):c.958+4A>G rs2146210816

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