ClinVar Miner

List of variants studied for Multiple endocrine neoplasia type 2A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_020975.6(RET):c.73+53G>A rs12267460 0.37428
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_020975.6(RET):c.1354C>A (p.Leu452Ile) rs151148041 0.00043
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020975.6(RET):c.337+34C>T rs368088467 0.00022
NM_020975.6(RET):c.1529C>T (p.Ala510Val) rs201745826 0.00019
NM_020975.6(RET):c.73+9278G>A rs537638504 0.00019
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.2607+4C>T rs200634990 0.00015
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_020975.6(RET):c.1437C>T (p.Ala479=) rs576806356 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_020975.6(RET):c.2601G>T (p.Glu867Asp) rs141459368 0.00011
NM_020975.6(RET):c.337+11C>T rs754967305 0.00011
NM_020975.6(RET):c.1879+17C>T rs369920430 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.1880-13C>A rs948277023 0.00009
NM_020975.6(RET):c.2136+15G>A rs751183869 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_020975.6(RET):c.961G>A (p.Gly321Arg) rs377767388 0.00009
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_020975.6(RET):c.3026T>C (p.Met1009Thr) rs375213011 0.00007
NM_020975.6(RET):c.1150C>G (p.Pro384Ala) rs536298339 0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.1649-4G>A rs369769303 0.00006
NM_020975.6(RET):c.175G>A (p.Ala59Thr) rs376565365 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_020975.6(RET):c.1441C>G (p.Leu481Val) rs767210575 0.00005
NM_020975.6(RET):c.2393-8G>A rs376151644 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.337+29G>A rs578158807 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_020975.6(RET):c.1724C>T (p.Thr575Ile) rs587780808 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2001A>T (p.Pro667=) rs563316790 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) rs34617196 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) rs775583354 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_020975.6(RET):c.509C>T (p.Thr170Ile) rs200547906 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) rs377767433 0.00003
NM_020975.6(RET):c.1018G>T (p.Val340Phe) rs367737920 0.00003
NM_020975.6(RET):c.1063A>G (p.Arg355Gly) rs145402131 0.00003
NM_020975.6(RET):c.1083C>A (p.Asn361Lys) rs770587835 0.00003
NM_020975.6(RET):c.1312G>A (p.Val438Ile) rs774474422 0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.1878G>A (p.Gln626=) rs147692872 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2285-4T>G rs376601566 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_020975.6(RET):c.2392+19T>C rs778745375 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.308A>G (p.His103Arg) rs375390467 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.1095G>A (p.Ser365=) rs201992974 0.00002
NM_020975.6(RET):c.1188G>A (p.Ser396=) rs758510657 0.00002
NM_020975.6(RET):c.1264-4C>T rs587780806 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1399G>C (p.Val467Leu) rs200334340 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.2041C>G (p.Gln681Glu) rs567241943 0.00002
NM_020975.6(RET):c.2226G>A (p.Thr742=) rs762876946 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) rs377767422 0.00002
NM_020975.6(RET):c.2833G>A (p.Val945Met) rs587780811 0.00002
NM_020975.6(RET):c.2875C>T (p.Arg959Trp) rs587778658 0.00002
NM_020975.6(RET):c.2939+6C>T rs181245759 0.00002
NM_020975.6(RET):c.3233C>T (p.Thr1078Met) rs762952212 0.00002
NM_020975.6(RET):c.335G>A (p.Arg112His) rs587780814 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517 0.00002
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) rs755850268 0.00001
NM_020975.6(RET):c.1008C>G (p.Asn336Lys) rs144981275 0.00001
NM_020975.6(RET):c.1052T>A (p.Val351Glu) rs749449032 0.00001
NM_020975.6(RET):c.1183G>C (p.Val395Leu) rs1452469572 0.00001
NM_020975.6(RET):c.139G>A (p.Gly47Ser) rs529018971 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901 0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 0.00001
NM_020975.6(RET):c.1574G>A (p.Arg525Gln) rs752830820 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1648+24G>A rs1057517640 0.00001
NM_020975.6(RET):c.1760-3C>T rs587781734 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 0.00001
NM_020975.6(RET):c.1907C>T (p.Thr636Met) rs1035958105 0.00001
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) rs777122776 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2080C>T (p.Arg694Trp) rs193922700 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2289C>T (p.Asn763=) rs777349208 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2607+5G>A rs143862573 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2758A>G (p.Ile920Val) rs527787676 0.00001
NM_020975.6(RET):c.2776C>G (p.His926Asp) rs774215008 0.00001
NM_020975.6(RET):c.2802-4G>T rs878855061 0.00001
NM_020975.6(RET):c.2887C>A (p.Leu963Ile) rs864622603 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880 0.00001
NM_020975.6(RET):c.3057G>A (p.Ala1019=) rs369579749 0.00001
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) rs200989078 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) rs776615468 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.473G>A (p.Ser158Asn) rs780067540 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_020975.6(RET):c.667G>A (p.Val223Met) rs587780815 0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala) rs541929171 0.00001
NM_020975.6(RET):c.835G>A (p.Ala279Thr) rs777221273 0.00001
NM_020975.6(RET):c.884C>T (p.Thr295Met) rs758159521 0.00001
NC_000010.11:g.43077015GCCCC[4] rs386134265
NM_004304.5(ALK):c.3098T>A (p.Leu1033His) rs572614173
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.6(RET):c.1141T>C (p.Phe381Leu) rs781362020
NM_020975.6(RET):c.1264-55dup rs193922698
NM_020975.6(RET):c.1267G>A (p.Gly423Arg) rs767601598
NM_020975.6(RET):c.1267G>T (p.Gly423Trp)
NM_020975.6(RET):c.1295C>T (p.Ala432Val)
NM_020975.6(RET):c.1377G>T (p.Glu459Asp) rs1564494424
NM_020975.6(RET):c.143C>T (p.Thr48Met) rs1427186016
NM_020975.6(RET):c.1466A>T (p.Asp489Val) rs923351888
NM_020975.6(RET):c.1467C>A (p.Asp489Glu) rs372648203
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1538C>T (p.Ala513Val) rs149238501
NM_020975.6(RET):c.1549C>G (p.Leu517Val) rs764616982
NM_020975.6(RET):c.1567A>C (p.Lys523Gln) rs766278774
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1777G>A (p.Gly593Arg) rs878855059
NM_020975.6(RET):c.1825T>G (p.Cys609Gly) rs77558292
NM_020975.6(RET):c.1826G>C (p.Cys609Ser) rs77939446
NM_020975.6(RET):c.1832G>T (p.Cys611Phe) rs377767397
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) rs80069458
NM_020975.6(RET):c.1852T>A (p.Cys618Ser) rs76262710
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) rs1255575160
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) rs377767405
NM_020975.6(RET):c.1897_1899del (p.Leu633del)
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) rs78935588
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) rs377767440
NM_020975.6(RET):c.2030G>A (p.Arg677Gln) rs536038262
NM_020975.6(RET):c.2111T>A (p.Val704Asp)
NM_020975.6(RET):c.2137-16del rs1409965349
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2285-16C>T rs781027098
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
NM_020975.6(RET):c.2330A>G (p.Asn777Ser) rs377767415
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2393-14C>G rs144269978
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2420C>G (p.Ala807Gly)
NM_020975.6(RET):c.2432C>G (p.Ser811Cys) rs587778657
NM_020975.6(RET):c.2492G>T (p.Gly831Val) rs760924186
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2531G>T (p.Arg844Leu) rs55947360
NM_020975.6(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020975.6(RET):c.2554A>G (p.Ile852Val) rs561276725
NM_020975.6(RET):c.2592T>C (p.Tyr864=) rs1588877395
NM_020975.6(RET):c.2608-8C>T
NM_020975.6(RET):c.2641C>G (p.Leu881Val) rs377767427
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) rs267607011
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) rs377767432
NM_020975.6(RET):c.2834T>C (p.Val945Ala) rs1408196943
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.2996C>G (p.Ala999Gly)
NM_020975.6(RET):c.3040-11C>G rs1057517646
NM_020975.6(RET):c.3142C>G (p.Leu1048Val) rs774347808
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.3188-2A>G rs1554820302
NM_020975.6(RET):c.428C>T (p.Ala143Val) rs1564490082
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) rs768132465
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.74-50G>T rs766786245

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