ClinVar Miner

List of variants reported as benign for benign endocrine neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.*613T>C rs693441 0.93280
NM_020975.6(RET):c.*1506G>A rs2742241 0.83094
NM_020630.5(RET):c.-200A>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
NM_015074.3(KIF1B):c.*5019T>C rs3748581 0.53815
NM_002382.5(MAX):c.*587G>A rs1957949 0.52668
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_002382.5(MAX):c.*717T>C rs4902358 0.27135
NM_002382.5(MAX):c.*92G>A rs45604339 0.26844
NM_020975.6(RET):c.*1116T>C rs2435355 0.22170
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_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.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.*1591G>A rs76759170 0.03751
NM_017849.4(TMEM127):c.*338G>A rs13022177 0.03241
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_017849.4(TMEM127):c.*1301T>C rs3770239 0.01488
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_003002.4(SDHD):c.*532A>T rs146261846 0.01251
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_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_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.*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_020975.6(RET):c.*1812C>A rs183817000 0.00220
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_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_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_017849.4(TMEM127):c.*3209A>G rs186348610 0.00064
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
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_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_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_017849.4(TMEM127):c.*3569C>T rs140274612 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.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.2976G>A (p.Pro992=) rs528823385 0.00004
NM_002382.5(MAX):c.-30C>G rs755465193 0.00003
NM_002382.5(MAX):c.295+10C>T rs375446224 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_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_001013625.4(CFAP126):c.*221del 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_003001.3(SDHC):c.20+11_20+12dup rs35215598
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.2393-14C>T rs144269978
NM_020975.6(RET):c.487C>A (p.Arg163=) rs371153966
NM_020975.6(RET):c.566G>A (p.Arg189His) rs753707182

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