ClinVar Miner

List of variants reported as benign for benign endocrine neoplasm

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_003000.3(SDHB):c.201-36G>T rs1022580 0.95416
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_003002.4(SDHD):c.*613T>C rs693441 0.93280
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_020975.6(RET):c.*1506G>A rs2742241 0.83094
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NC_000010.11:g.43077059A>G rs10900296 0.77447
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_017849.4(TMEM127):c.*1958A>C rs7058 0.56373
NC_000001.11:g.10381606T>C rs3748581 0.53815
NM_002382.5(MAX):c.*587G>A rs1957949 0.52668
NM_003000.3(SDHB):c.642+325C>T rs2235930 0.51227
NM_002382.5(MAX):c.*565G>A rs1957948 0.48891
NM_002382.5(MAX):c.*1127G>C rs4902357 0.48713
NM_002382.5(MAX):c.*404C>T rs4902359 0.48552
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_002382.5(MAX):c.*717T>C rs4902358 0.27135
NM_002382.5(MAX):c.*92G>A rs45604339 0.26844
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_020975.6(RET):c.*1116T>C rs2435355 0.22170
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.*388G>A rs3026782 0.17032
NM_020975.6(RET):c.*95C>T rs17028 0.16697
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_017849.4(TMEM127):c.621G>A (p.Ala207=) rs3852673 0.13717
NM_003001.4(SDHC):c.*1181_*1182insA rs34067216 0.11567
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_003002.4(SDHD):c.*803A>G rs17113461 0.10714
NM_003002.4(SDHD):c.*260T>A rs149570245 0.04112
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_020975.6(RET):c.*1591G>A rs76759170 0.03751
NM_017849.4(TMEM127):c.*338G>A rs13022177 0.03241
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_017849.4(TMEM127):c.*1301T>C rs3770239 0.01488
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_003002.4(SDHD):c.*532A>T rs146261846 0.01251
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_017849.4(TMEM127):c.*2086C>T rs13418193 0.00895
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_002382.5(MAX):c.-100T>G rs111941208 0.00769
NM_017849.4(TMEM127):c.*1163C>T rs11691019 0.00769
NM_017849.4(TMEM127):c.*50C>T rs72937654 0.00712
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_017849.4(TMEM127):c.*2012C>T rs149122699 0.00641
NM_020975.6(RET):c.*330A>G rs141460872 0.00640
NM_020975.6(RET):c.*1870C>T rs146771196 0.00539
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_002382.5(MAX):c.-94G>C rs536235832 0.00379
NM_017849.4(TMEM127):c.*1306C>T rs148119945 0.00371
NM_017849.4(TMEM127):c.-87C>T rs527792197 0.00319
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.*1583G>A rs192065891 0.00300
NM_020975.6(RET):c.*1599G>A rs145954635 0.00265
NM_002382.5(MAX):c.*461C>T rs183428804 0.00262
NM_020975.6(RET):c.*1558A>C rs142572876 0.00260
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_020975.6(RET):c.*1812C>A rs183817000 0.00220
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_017849.4(TMEM127):c.*2498C>T rs191565203 0.00173
NM_017849.4(TMEM127):c.*2845T>G rs182729595 0.00168
NM_017849.4(TMEM127):c.*1233C>T rs536712285 0.00162
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_017849.4(TMEM127):c.*2300G>A rs117655540 0.00153
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_017849.4(TMEM127):c.*502C>T rs191970829 0.00128
NM_020975.6(RET):c.*1130A>G rs572936041 0.00112
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_002382.5(MAX):c.*616C>T rs192895631 0.00103
NM_017849.4(TMEM127):c.-59C>T rs542087360 0.00093
NM_017849.4(TMEM127):c.*57C>T rs147532087 0.00089
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.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_002382.5(MAX):c.*7C>T rs199514174 0.00051
NM_002382.5(MAX):c.*144C>T rs191382960 0.00050
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_017849.4(TMEM127):c.*2966C>G rs17119378 0.00049
NM_020975.6(RET):c.*576G>A rs185408658 0.00044
NM_020975.6(RET):c.*1644G>C rs117119161 0.00043
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_020975.6(RET):c.*1348G>A rs149252070 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu) rs377740271 0.00036
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_017849.4(TMEM127):c.*3209A>G rs186348610 0.00031
NM_002382.5(MAX):c.*128T>A rs539193441 0.00029
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_002382.5(MAX):c.-18C>T rs201456746 0.00027
NM_017849.4(TMEM127):c.565C>T (p.Leu189=) rs146965678 0.00022
NM_020975.6(RET):c.337+34C>T rs368088467 0.00022
NM_017849.4(TMEM127):c.*3569C>T rs140274612 0.00020
NM_020975.6(RET):c.3040-20C>T rs372172456 0.00020
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337 0.00019
NM_002382.5(MAX):c.*1123A>C rs552459072 0.00014
NM_002382.5(MAX):c.-98G>T rs556543602 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.1701C>T (p.Asp567=) rs201209972 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667 0.00012
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_002382.5(MAX):c.*375G>A rs539220905 0.00009
NM_017849.4(TMEM127):c.*3584G>C rs370166706 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_002382.5(MAX):c.*248A>T rs559154342 0.00007
NM_002382.5(MAX):c.*297C>T rs561525266 0.00007
NM_020975.6(RET):c.*1326T>C rs141016377 0.00007
NM_017849.4(TMEM127):c.*1723C>T rs551200730 0.00005
NM_020975.6(RET):c.2418C>T (p.Tyr806=) rs553418132 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385 0.00004
NM_020975.6(RET):c.603C>T (p.Ser201=) rs780120451 0.00004
NM_002382.5(MAX):c.-30C>G rs755465193 0.00003
NM_020975.6(RET):c.3090C>T (p.Asp1030=) rs142859395 0.00003
NM_020975.6(RET):c.582G>A (p.Gln194=) rs368116579 0.00003
NM_002382.5(MAX):c.295+10C>T rs375446224 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_017849.4(TMEM127):c.*1505A>G rs118172849 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr) rs750870974 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_020975.6(RET):c.1539G>A (p.Ala513=) rs761430718 0.00001
NM_020975.6(RET):c.1908G>A (p.Thr636=) rs886038663 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NC_000001.11:g.161364751del rs57914150
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_002382.5(MAX):c.*344T>A rs561238353
NM_002382.5(MAX):c.*65G>C rs566299166
NM_002382.5(MAX):c.*700G>T rs139403325
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028
NM_003000.3(SDHB):c.73-29del rs745905902
NM_003000.3(SDHB):c.73-7del rs2101541662
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003002.4(SDHD):c.315-13del rs2135277277
NM_003002.4(SDHD):c.315-13dup rs2135277277
NM_003002.4(SDHD):c.52+8del rs2135264855
NM_003002.4(SDHD):c.53-52_53-49del rs562618773
NM_017849.4(TMEM127):c.*1772G>A rs537225254
NM_020975.6(RET):c.*1046G>C rs143948954
NM_020975.6(RET):c.*492G>C rs568766449
NM_020975.6(RET):c.-160G>T rs567112195
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1866C>T (p.Pro622=) rs201979255
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_020975.6(RET):c.487C>A (p.Arg163=) rs371153966
NM_020975.6(RET):c.566G>A (p.Arg189His) rs753707182

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