ClinVar Miner

List of variants reported as pathogenic for endocrine gland neoplasm by OMIM

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
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HGVS dbSNP gnomAD frequency
NM_004897.5(MINPP1):c.933+34T>A rs41299159 0.12000
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) rs137853086 0.00021
NM_004482.4(GALNT3):c.516-2A>T rs761396172 0.00013
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_004482.4(GALNT3):c.1524+5G>A rs375879489 0.00006
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) rs1270341616 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_002070.4(GNAI2):c.536G>A (p.Arg179His) rs137853227 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 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_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter) rs137853087 0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) rs766750282 0.00001
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys) rs137853090 0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423 0.00001
NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter) rs543007243 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His) rs781626187 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
CDC73, 41-BP DUP/INS
CLCN2, LYS362DEL
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NC_000001.11:g.161367196_161370200delinsGTCA
NC_000011.10:g.64804807_64804818del rs760199250
NC_000011.9:g.(?_111957571)_(111966518_?)del
NM_000038.6(APC):c.1695del (p.Val566fs) rs397514032
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) rs137854578
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg) rs121913677
NM_000245.4(MET):c.3750G>A (p.Met1250Ile) rs121913676
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4:c.2628_2629insAlu
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val) rs121434587
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu) rs121434588
NM_001370259.2(MEN1):c.1024del (p.Ala342fs) rs1555164986
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter) rs104894265
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter) rs104894260
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser) rs121913035
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu) rs104894262
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter) rs104894258
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.631_634del (p.Val211fs) rs1941851693
NM_001370259.2(MEN1):c.654+1G>A rs794728622
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3]) rs1555165485
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.824+1G>A rs1060499976
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs) rs587776665
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys) rs137853226
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe) rs121917755
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.4(SDHD):c.191_192del (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) rs587776645
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003002.4(SDHD):c.463del (p.Met155fs) rs587776647
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs) rs587776627
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs) rs1374026152
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys) rs1567651815
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val) rs1203876038
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=) rs1567650874
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr) rs1567650859
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg) rs1553853557
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys) rs758379595
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn) rs1553857113
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys) rs137853091
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter) rs137853089
NM_004482.4(GALNT3):c.1524+1G>A rs745655924
NM_004482.4(GALNT3):c.1626+1G>A rs760830864
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly) rs267606841
NM_004482.4(GALNT3):c.677del (p.Ala226fs) rs786205250
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter) rs137853088
NM_004752.3(GCM2):c.[1136T>A;751C>G]
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu) rs119486096
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg) rs104894171
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn) rs137852869
NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu) rs121918554
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_020638.3(FGF23):c.287T>C (p.Met96Thr) rs104894343
NM_020638.3(FGF23):c.386C>T (p.Ser129Phe) rs104894344
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr) rs797044990
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) rs377767434
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) rs80069458
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>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) 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.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.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.85del (p.Glu29fs) rs587776560
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
PDGRL, 2-BP DEL

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