ClinVar Miner

List of variants in gene RET studied for Multiple endocrine neoplasia, type 2b

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Total variants: 122
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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.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2608-24G>A rs2472737 0.20380
NM_020975.6(RET):c.2284+47C>T rs760466 0.18873
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.2508C>T (p.Ser836=) rs1800862 0.03791
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.375C>A (p.Val125=) rs1800859 0.00877
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.1119G>A (p.Ala373=) rs113931414 0.00079
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_020975.6(RET):c.337+34C>T rs368088467 0.00022
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
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.1437C>T (p.Ala479=) rs576806356 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 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.2136+15G>A rs751183869 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 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.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.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.604G>A (p.Val202Met) rs751572082 0.00006
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.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 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.2976G>A (p.Pro992=) rs528823385 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 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.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 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.3149G>A (p.Arg1050Gln) rs200956659 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.582G>A (p.Gln194=) rs368116579 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_020975.6(RET):c.1095G>A (p.Ser365=) rs201992974 0.00002
NM_020975.6(RET):c.1264-4C>T rs587780806 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.2875C>T (p.Arg959Trp) rs587778658 0.00002
NM_020975.6(RET):c.335G>A (p.Arg112His) rs587780814 0.00002
NM_020975.6(RET):c.1539G>A (p.Ala513=) rs761430718 0.00001
NM_020975.6(RET):c.1648+24G>A rs1057517640 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.1908G>A (p.Thr636=) rs886038663 0.00001
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) rs777122776 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.3057G>A (p.Ala1019=) rs369579749 0.00001
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) rs776615468 0.00001
NM_020975.6(RET):c.322A>C (p.Lys108Gln) rs567877611 0.00001
NM_020975.6(RET):c.667G>A (p.Val223Met) rs587780815 0.00001
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.6(RET):c.1162G>T (p.Val388Phe) rs776223166
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1866C>T (p.Pro622=) rs201979255
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu) rs121913307
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.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1934_1936del (p.Ser645del) rs1416677590
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.2313C>G (p.Asp771Glu) rs1838123343
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2531G>T (p.Arg844Leu) rs55947360
NM_020975.6(RET):c.2554A>G (p.Ile852Val) rs561276725
NM_020975.6(RET):c.2561T>C (p.Phe854Ser) rs1838163624
NM_020975.6(RET):c.2631del (p.Arg878fs) rs1838178970
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.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.3040-11C>G rs1057517646
NM_020975.6(RET):c.3142C>G (p.Leu1048Val) rs774347808
NM_020975.6(RET):c.951G>A (p.Thr317=) rs375812189

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