ClinVar Miner

List of variants studied for papillary renal cell carcinoma

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 378
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.*1428G>A rs1621 0.63315
NM_000245.4(MET):c.*2240G>A rs6566 0.34157
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.*1028A>G rs41738 0.34071
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_000245.4(MET):c.*1326A>G rs41739 0.34010
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.16754
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_000245.4(MET):c.*684G>A rs12540703 0.05662
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_000245.4(MET):c.*216C>A rs149188493 0.02223
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_000245.4(MET):c.-14-13C>T rs36080330 0.00978
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_000245.4(MET):c.390C>T (p.Leu130=) rs150588908 0.00740
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.*2202G>A rs14456 0.00515
NM_000245.4(MET):c.*1987C>T rs76322625 0.00499
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000245.4(MET):c.*1220G>A rs139535303 0.00336
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000245.4(MET):c.*787G>A rs143472935 0.00290
NM_000245.4(MET):c.*231T>G rs59399612 0.00287
NM_000245.4(MET):c.*1010G>T rs150534017 0.00272
NM_000245.4(MET):c.*87G>A rs41281081 0.00250
NM_000245.4(MET):c.3522T>C (p.His1174=) rs146651797 0.00243
NM_000245.4(MET):c.2365-21G>C rs140853140 0.00242
NM_000245.4(MET):c.*385G>A rs181068390 0.00235
NM_000245.4(MET):c.*201C>T rs1129355 0.00192
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_000245.4(MET):c.*2100C>T rs190739281 0.00165
NM_000245.4(MET):c.*1871G>A rs139377965 0.00152
NM_000245.4(MET):c.*1224C>T rs149713628 0.00150
NM_000245.4(MET):c.*656G>A rs531456758 0.00104
NM_000245.4(MET):c.*602C>T rs147343288 0.00093
NM_000245.4(MET):c.*1886T>A rs536185931 0.00076
NM_000245.4(MET):c.*944A>G rs565768785 0.00076
NM_000245.4(MET):c.3549C>T (p.Gly1183=) rs371165052 0.00074
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.*1636C>T rs186175651 0.00057
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000245.4(MET):c.-64G>T rs866509744 0.00042
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835 0.00039
NM_000245.4(MET):c.3810C>T (p.Gly1270=) rs200865810 0.00039
NM_000245.4(MET):c.1191C>T (p.Cys397=) rs35763409 0.00028
NM_000245.4(MET):c.*1637G>A rs534514626 0.00026
NM_000245.4(MET):c.*655C>T rs563978117 0.00026
NM_000245.4(MET):c.*2079G>A rs757859772 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000245.4(MET):c.*1784T>A rs554029534 0.00023
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000245.4(MET):c.3632+42C>G rs376183825 0.00021
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438 0.00021
NM_000245.4(MET):c.*1593G>A rs764929802 0.00020
NM_000245.4(MET):c.3522+12G>T rs200624981 0.00019
NM_000245.4(MET):c.1263C>T (p.Thr421=) rs45499391 0.00016
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000245.4(MET):c.2365-14G>T rs769247886 0.00013
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000245.4(MET):c.-66G>T rs886061941 0.00010
NM_000245.4(MET):c.*1714C>A rs747850853 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.*1878A>G rs770910579 0.00007
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000245.4(MET):c.803C>T (p.Thr268Ile) rs757427533 0.00007
NM_000245.4(MET):c.960G>A (p.Ala320=) rs191198682 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000245.4(MET):c.*803T>A rs1001801655 0.00006
NM_000245.4(MET):c.12C>T (p.Pro4=) rs772251895 0.00006
NM_000245.4(MET):c.36C>T (p.Leu12=) rs188625702 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) rs45612435 0.00005
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00005
NM_000245.4(MET):c.632T>G (p.Leu211Trp) rs45483396 0.00005
NM_000245.4(MET):c.*221G>A rs886061946 0.00004
NM_000245.4(MET):c.*76C>T rs527496385 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1278C>T (p.Arg426=) rs748508881 0.00004
NM_000245.4(MET):c.1320A>G (p.Thr440=) rs763726060 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1881T>C (p.Gly627=) rs200050499 0.00004
NM_000245.4(MET):c.1992G>A (p.Pro664=) rs373842614 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00004
NM_000245.4(MET):c.428G>A (p.Arg143Gln) rs35469582 0.00004
NM_000245.4(MET):c.*2051C>T rs886061951 0.00003
NM_000245.4(MET):c.*296G>C rs1237383281 0.00003
NM_000245.4(MET):c.*397A>G rs559231345 0.00003
NM_000245.4(MET):c.1972G>A (p.Val658Ile) rs587778446 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) rs768678989 0.00003
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn) rs752641437 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys) rs747239403 0.00003
NM_000245.4(MET):c.639G>A (p.Ser213=) rs587780738 0.00003
NM_000245.4(MET):c.690G>A (p.Thr230=) rs200138253 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln) rs778855567 0.00003
NM_000245.4(MET):c.*530G>A rs185897782 0.00002
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1965+14T>C rs543293293 0.00002
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4074C>T (p.Asn1358=) rs772860611 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000245.4(MET):c.939G>A (p.Val313=) rs375716972 0.00002
NM_000245.4(MET):c.*1477C>T rs750893461 0.00001
NM_000245.4(MET):c.*41A>G rs771518812 0.00001
NM_000245.4(MET):c.-7T>C rs863224376 0.00001
NM_000245.4(MET):c.1099A>G (p.Ile367Val) rs774146015 0.00001
NM_000245.4(MET):c.1171G>A (p.Gly391Arg) rs587778443 0.00001
NM_000245.4(MET):c.1238G>A (p.Arg413His) rs375391602 0.00001
NM_000245.4(MET):c.1306G>A (p.Glu436Lys) rs200740468 0.00001
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.1693A>G (p.Ile565Val) rs745479104 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.1904A>G (p.Asn635Ser) rs773826297 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.2192G>A (p.Arg731Gln) rs45446492 0.00001
NM_000245.4(MET):c.2673C>T (p.Ala891=) rs561131509 0.00001
NM_000245.4(MET):c.2716G>A (p.Glu906Lys) rs778115147 0.00001
NM_000245.4(MET):c.2914G>A (p.Asp972Asn) rs756031094 0.00001
NM_000245.4(MET):c.2974A>G (p.Thr992Ala) rs774433287 0.00001
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00001
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) rs786202724 0.00001
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000245.4(MET):c.362T>C (p.Val121Ala) rs879254339 0.00001
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser) rs779121848 0.00001
NM_000245.4(MET):c.3997C>G (p.Leu1333Val) rs758738756 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000245.4(MET):c.600C>G (p.Thr200=) rs1225303075 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.716A>C (p.Asn239Thr) rs1057519999 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp) rs755415626 0.00001
NC_000007.13:g.(?_116339129)_(116340348_?)dup
NC_000007.13:g.(?_116339129)_(117144427_?)dup
NC_000007.13:g.(?_116339133)_(116399550_?)dup
NC_000007.13:g.(?_116395399)_(116395579_?)dup
NC_000007.14:g.(?_116699075)_(116796134_?)dup
NC_000007.14:g.(?_116699075)_(117667118_?)del
NC_000007.14:g.(?_116699085)_(116700294_?)dup
NC_000007.14:g.(?_116740842)_(116796134_?)dup
NC_000007.14:g.(?_116740846)_(116741031_?)del
NM_000051.4(ATM):c.8671+2_8671+3insTA rs2137087134
NM_000245.4(MET):c.*105C>A rs886061945
NM_000245.4(MET):c.*1233G>A rs560568639
NM_000245.4(MET):c.*1244G>A rs144559852
NM_000245.4(MET):c.*1244G>T rs144559852
NM_000245.4(MET):c.*1359T>C rs1795712500
NM_000245.4(MET):c.*1460C>G rs886061949
NM_000245.4(MET):c.*1809C>T rs868554436
NM_000245.4(MET):c.*1882G>T rs886061950
NM_000245.4(MET):c.*1909A>G rs1795730503
NM_000245.4(MET):c.*1929A>G rs1321841621
NM_000245.4(MET):c.*2134T>A rs144156652
NM_000245.4(MET):c.*2147T>C rs1795737615
NM_000245.4(MET):c.*2202G>T rs14456
NM_000245.4(MET):c.*2245G>T rs1447240969
NM_000245.4(MET):c.*27C>A rs1795669540
NM_000245.4(MET):c.*2G>T rs1795668471
NM_000245.4(MET):c.*359G>A rs1795682838
NM_000245.4(MET):c.*376G>T rs553602374
NM_000245.4(MET):c.*422T>A rs886061947
NM_000245.4(MET):c.*438T>A rs955990225
NM_000245.4(MET):c.*480T>C rs1207133647
NM_000245.4(MET):c.*493A>C rs1795687373
NM_000245.4(MET):c.*786C>T rs935854365
NM_000245.4(MET):c.*984C>T rs573510587
NM_000245.4(MET):c.*995G>T rs886061948
NM_000245.4(MET):c.-109C>T rs1796009308
NM_000245.4(MET):c.-157T>G rs886061940
NM_000245.4(MET):c.-165C>G rs886061939
NM_000245.4(MET):c.-180C>A rs886061938
NM_000245.4(MET):c.-182C>A rs536603694
NM_000245.4(MET):c.-35C>G rs1796012626
NM_000245.4(MET):c.1011G>A (p.Leu337=) rs886061942
NM_000245.4(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1361A>T (p.Asn454Ile) rs587780734
NM_000245.4(MET):c.1393-1G>T rs1584921909
NM_000245.4(MET):c.1393-2A>T rs1584921898
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1496A>G (p.Asn499Ser) rs1253878709
NM_000245.4(MET):c.1507C>G (p.Leu503Val) rs1417433919
NM_000245.4(MET):c.1508T>A (p.Leu503Gln) rs1562908826
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073
NM_000245.4(MET):c.16G>T (p.Val6Leu) rs1395233386
NM_000245.4(MET):c.1701+58dup rs112241458
NM_000245.4(MET):c.1701+59G>T rs759007523
NM_000245.4(MET):c.1863-5dup rs766900241
NM_000245.4(MET):c.1866G>C (p.Leu622Phe) rs1562921668
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.1965+11T>G rs780230492
NM_000245.4(MET):c.1973T>C (p.Val658Ala) rs1584941533
NM_000245.4(MET):c.2103-1G>T rs1336351205
NM_000245.4(MET):c.2103-2A>T rs1470403316
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.2265-48G>T rs587780540
NM_000245.4(MET):c.236A>G (p.Gln79Arg) rs1562883214
NM_000245.4(MET):c.2375A>G (p.His792Arg) rs980467681
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.252C>T (p.Tyr84=) rs1584876265
NM_000245.4(MET):c.2568T>G (p.Asn856Lys) rs118057172
NM_000245.4(MET):c.2584-1G>T rs1240673121
NM_000245.4(MET):c.2584-3C>T rs1337305891
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.2584-9del rs57349036
NM_000245.4(MET):c.2672C>G (p.Ala891Gly) rs1562929174
NM_000245.4(MET):c.2828C>T (p.Thr943Ile) rs2116992551
NM_000245.4(MET):c.2887+1G>T
NM_000245.4(MET):c.2887+5A>T rs752292538
NM_000245.4(MET):c.2892G>A (p.Leu964=) rs1584955273
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.2917G>A (p.Ala973Thr) rs1584955330
NM_000245.4(MET):c.2995G>C (p.Glu999Gln) rs1404824650
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3200A>T (p.Gln1067Leu) rs1554398900
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp) rs1794955289
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.3392T>C (p.Met1131Thr) rs121913668
NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)
NM_000245.4(MET):c.3562G>T (p.Val1188Leu) rs121913669
NM_000245.4(MET):c.3583C>G (p.Leu1195Val) rs121913673
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) rs121913671
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.3867C>T (p.Thr1289=) rs587780532
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala) rs1562941559
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp) rs1562941622
NM_000245.4(MET):c.410A>G (p.Asn137Ser) rs1584876716
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly) rs773898036
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu) rs370368651
NM_000245.4(MET):c.425A>G (p.Gln142Arg) rs768640780
NM_000245.4(MET):c.51C>T (p.Thr17=) rs1584875653
NM_000245.4(MET):c.569A>G (p.Asp190Gly) rs1028165414
NM_000245.4(MET):c.728A>G (p.Asp243Gly) rs1562883992
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.847T>C (p.Ser283Pro) rs1791505194
NM_000245.4(MET):c.850A>G (p.Ile284Val) rs776014448
NM_000245.4(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000551.4(VHL):c.266T>A (p.Leu89His) rs5030807
NM_000551.4(VHL):c.473T>A (p.Leu158Gln) rs121913346
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_001127500.2(MET):c.(?_-1)_1200+?dup
NM_001127500.2(MET):c.1528-?_*2262dup4962
NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp) rs1553631848
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp) rs1057519913
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr) rs1057519917
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe) rs1057519916
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn) rs1057519949
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys) rs1057519950
NM_005648.4(ELOC):c.235T>A (p.Tyr79Asn) rs1057519974
NM_005648.4(ELOC):c.236A>C (p.Tyr79Ser) rs1057519973
NM_005648.4(ELOC):c.236A>T (p.Tyr79Phe) rs1057519973
NM_005973.5(PRCC):c.722C>T (p.Ser241Leu)
NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn) rs1057519920
NM_006164.5(NFE2L2):c.85G>C (p.Asp29His) rs1057519920
NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr) rs1057519920
NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly) rs1057519921
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.