ClinVar Miner

List of variants reported as likely pathogenic for malignant endocrine neoplasm

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 341
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.1025-49G>T rs7975232 0.55284
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000537.4(REN):c.1216C>T (p.Arg406Cys) rs547414447 0.00018
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) rs755850268 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749 0.00001
NM_017841.4(SDHAF2):c.260+3A>G rs1445986287 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_021930.6(RINT1):c.1107+1G>T rs200989342 0.00001
NC_000001.10:g.(?_17349093)_(17350579_?)del
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17354234)_(17359650_?)dup
NC_000001.10:g.(?_17356590)_(17359633_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)dup
NC_000001.10:g.(?_17371236)_(17371403_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)dup
NC_000001.10:g.(?_193099294)_(193111206_?)del
NC_000001.10:g.(?_193104511)_(193121584_?)dup
NC_000001.10:g.(?_193172919)_(193205492_?)dup
NC_000001.10:g.(?_193172925)_(193205486_?)dup
NC_000001.11:g.(?_193130168)_(193135595_?)del
NC_000010.10:g.(?_43595901)_(43598083_?)del
NC_000010.11:g.(?_43100449)_(43102639_?)del
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.2206A>T (p.Lys736Ter)
NM_000038.6(APC):c.406G>T (p.Glu136Ter)
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.645+1G>T rs863225370
NM_000038.6(APC):c.6634dup (p.Gln2212fs)
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000081.4(LYST):c.11149_11151dup (p.Val3717_Ser3718insVal)
NM_000123.4(ERCC5):c.1081del (p.Leu361fs) rs2140527110
NM_000214.3(JAG1):c.3445_3448del (p.Ile1149fs)
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu) rs63750285
NM_000535.7(PMS2):c.1144+250_2175-1948del
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.652del (p.Val218fs)
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_724del (p.Ser241del)
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.75-7_82delinsA
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.917_919+5delinsAGGA
NM_000546.6(TP53):c.993+1G>T rs11575997
NM_000546.6(TP53):c.993+2T>C rs1597359053
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs) rs1783569729
NM_001079668.3(NKX2-1):c.572G>T (p.Arg191Leu)
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs) rs1575330336
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys) rs1647927494
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn) rs1570958090
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.200+5G>T rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe) rs2101528919
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu) rs570278423
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys) rs587782243
NM_003000.3(SDHB):c.287-10_295del
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.424-1G>A rs1131691060
NM_003000.3(SDHB):c.424-79_424-2del
NM_003000.3(SDHB):c.540+1G>A rs1553177667
NM_003000.3(SDHB):c.540_540+13del rs1553177666
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp) rs2101516550
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg) rs2101516484
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.598dup (p.Trp200fs) rs2101516417
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg)
NM_003000.3(SDHB):c.637dup (p.Met213fs)
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642_642+6del rs876660368
NM_003000.3(SDHB):c.643-1G>A rs1553177292
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu) rs747518441
NM_003000.3(SDHB):c.72+2T>G
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp) rs2101513669
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>C
NM_003000.3(SDHB):c.73-2A>T rs1474282888
NM_003000.3(SDHB):c.756_765+4del rs1553177267
NM_003000.3(SDHB):c.765+1G>A rs2101513511
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro) rs1553999041
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1064+2T>C
NM_004168.4(SDHA):c.1064+2T>G rs1553999072
NM_004168.4(SDHA):c.1065-2A>G
NM_004168.4(SDHA):c.1260+1G>A rs1735710012
NM_004168.4(SDHA):c.1260+1G>T
NM_004168.4(SDHA):c.1260+2T>A rs1735710103
NM_004168.4(SDHA):c.1261-1G>A rs1735779936
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) rs1579409500
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1G>A
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1432+1G>T rs878854628
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
NM_004168.4(SDHA):c.1432+2T>C
NM_004168.4(SDHA):c.1432+2T>G
NM_004168.4(SDHA):c.1433-1G>A
NM_004168.4(SDHA):c.1433-2A>G
NM_004168.4(SDHA):c.150+1G>C rs1057523165
NM_004168.4(SDHA):c.150_150+1delinsTA rs2126539987
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1551+1G>A rs759806010
NM_004168.4(SDHA):c.1551+1G>C
NM_004168.4(SDHA):c.1552-1G>C
NM_004168.4(SDHA):c.1552-1G>T
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1664-16_1666del
NM_004168.4(SDHA):c.1664-1G>A
NM_004168.4(SDHA):c.1664-1G>C
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) rs387906780
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1769del (p.Gly590fs) rs1554001958
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) rs1561010948
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1832del (p.Gln611fs) rs1554002451
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.210dup (p.Gly71fs) rs1553997340
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.312+1G>A rs2126543441
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.621+1G>A rs1735002961
NM_004168.4(SDHA):c.621+1G>T
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.622-2A>T
NM_004168.4(SDHA):c.63+1G>C
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>C
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.769_770+77del
NM_004168.4(SDHA):c.770+2T>A
NM_004168.4(SDHA):c.771-1G>C rs1735353141
NM_004168.4(SDHA):c.895+1del rs2126568833
NM_004168.4(SDHA):c.895+2T>C
NM_004168.4(SDHA):c.896-2A>G
NM_004168.4(SDHA):c.896-2del
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004168.4(SDHA):c.964C>T (p.Gln322Ter)
NM_004168.4:c.(1260_1261)_(1432_1433)del
NM_004473.4(FOXE1):c.346C>A (p.Arg116Ser)
NM_004985.5(KRAS):c.445A>T (p.Arg149Ter) rs2141505552
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2046del (p.Val683fs)
NM_005732.4(RAD50):c.2524+1_2524+9del
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
NM_015965.7(NDUFA13):c.94+1G>A
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.267del (p.Phe89fs) rs766035180
NM_017841.4(SDHAF2):c.28del (p.Ser10fs) rs1861838658
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.406del (p.Val136fs)
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) rs1862009020
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
NM_020975.6(RET):c.1522+2T>C rs2132777891
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) rs77316810
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu) rs121913307
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) rs377767440
NM_020975.6(RET):c.2136+2T>G
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.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2672C>T (p.Ser891Leu)
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.2914A>G (p.Arg972Gly) rs76534745
NM_020975.6(RET):c.3040-2A>G rs2133032257
NM_020975.6(RET):c.3222dup (p.Val1075fs) rs1838374810
NM_020975.6(RET):c.74-2A>T rs2132656224
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
NM_021930.6(RINT1):c.1021C>G (p.Leu341Val) rs151055286
NM_024529.5(CDC73):c.1030+2T>C
NM_024529.5(CDC73):c.1031-1G>T
NM_024529.5(CDC73):c.1067-2_1069del rs2102038469
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.127dup (p.Trp43fs)
NM_024529.5(CDC73):c.1316+1del rs2102058495
NM_024529.5(CDC73):c.132-2A>C
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.237_237+1insA
NM_024529.5(CDC73):c.238-8G>A rs2103117753
NM_024529.5(CDC73):c.307+1G>A
NM_024529.5(CDC73):c.307+2T>G
NM_024529.5(CDC73):c.480_481del (p.His160fs) rs1572152420
NM_024529.5(CDC73):c.512+1del
NM_024529.5(CDC73):c.513-1G>A
NM_024529.5(CDC73):c.549del (p.Ala184fs)
NM_024529.5(CDC73):c.729+1G>T rs1060500012
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_198253.3(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro) rs751409106
NM_207122.2(EXT2):c.1242C>T (p.Ile414=) rs2135127852

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