ClinVar Miner

List of variants studied for endocrine gland neoplasm by Mendelics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001370259.2(MEN1):c.-24+84C>G rs568093485 0.00202
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
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.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys) rs137994522 0.00027
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.1529C>T (p.Ala510Val) rs201745826 0.00019
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_000244.4(MEN1):c.-47A>G rs1035192873 0.00013
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu) rs199646180 0.00009
NM_020975.6(RET):c.961G>A (p.Gly321Arg) rs377767388 0.00009
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.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys) rs773500082 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) rs757031354 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.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_001007792.1(NTRK1):c.119C>A (p.Ala40Glu) rs779943666 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) rs377767433 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) rs760222071 0.00002
NM_017849.4(TMEM127):c.410-6T>G rs765971817 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517 0.00002
NM_001007792.1(NTRK1):c.10-562dup rs761392074 0.00001
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) rs761247634 0.00001
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00001
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) rs1306924167 0.00001
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) rs547972574 0.00001
NM_020975.6(RET):c.1183G>C (p.Val395Leu) rs1452469572 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.1760-3C>T rs587781734 0.00001
NM_020975.6(RET):c.1907C>T (p.Thr636Met) rs1035958105 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.3052C>T (p.Leu1018Phe) rs766330880 0.00001
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) rs200989078 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_001007792.1(NTRK1):c.37del (p.Val13fs) rs1451820799
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) rs794728627
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala) rs1565638407
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser) rs779466487
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) rs779413959
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs) rs1592658517
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp) rs1208267598
NM_001370259.2(MEN1):c.654+1G>T rs794728622
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs) rs1575320216
NM_001904.4(CTNNB1):c.1494dup (p.His499fs) rs1553631896
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs) rs1575330336
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237
NM_004795.4(KL):c.2702-59dup rs34137141
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_020975.6(RET):c.1377G>T (p.Glu459Asp) rs1564494424
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.1567A>C (p.Lys523Gln) rs766278774
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) rs1255575160
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
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.2432C>G (p.Ser811Cys) rs587778657
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2592T>C (p.Tyr864=) rs1588877395
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.3182T>C (p.Leu1061Pro) rs536486113
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
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024529.5(CDC73):c.220dup (p.Tyr74fs) rs1572142597
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412

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.