ClinVar Miner

List of variants studied for benign neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 536
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.*613T>C rs693441 0.93280
NM_002272.4(KRT4):c.1346+15A>G rs931479 0.83879
NM_153490.3(KRT13):c.735+10A>G rs7211835 0.83623
NM_002272.4(KRT4):c.678-14G>A rs2307027 0.83484
NM_020975.6(RET):c.*1506G>A rs2742241 0.83094
NM_002272.4(KRT4):c.*269A>G rs2035879 0.82793
NM_153490.3(KRT13):c.897+6C>T rs4796698 0.81266
NM_020630.5(RET):c.-200A>G rs10900296 0.77447
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_153490.3(KRT13):c.560C>T (p.Ala187Val) rs9891361 0.71565
NM_153490.3(KRT13):c.*171G>T rs903 0.68196
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_002272.4(KRT4):c.215C>T (p.Ala72Val) rs2638525 0.51489
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_020975.5(RET):c.-196C>A rs10900297 0.41632
NM_002272.4(KRT4):c.467A>G (p.Gln156Arg) rs7959052 0.28838
NM_002382.5(MAX):c.*717T>C rs4902358 0.27135
NM_002382.5(MAX):c.*92G>A rs45604339 0.26844
NM_004168.3(SDHA):c.-115T>C rs2303741 0.25160
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.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.204C>T (p.Ser68=) rs9919552 0.11428
NM_003002.4(SDHD):c.*803A>G rs17113461 0.10714
NM_153490.3(KRT13):c.437C>G (p.Ala146Gly) rs760134 0.07279
NM_153490.3(KRT13):c.*170C>T rs3169911 0.05973
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
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_002272.4(KRT4):c.1381+15C>T rs7952923 0.03297
NM_017849.4(TMEM127):c.*338G>A rs13022177 0.03241
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_002272.4(KRT4):c.261T>A (p.Gly87=) rs74445207 0.02489
NM_153490.3(KRT13):c.204C>A (p.Gly68=) rs113547405 0.02087
NM_153490.3(KRT13):c.736-7C>G rs34367942 0.01881
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_153490.3(KRT13):c.384C>T (p.Ala128=) rs149623369 0.01541
NM_017849.4(TMEM127):c.*1301T>C rs3770239 0.01488
NM_002382.5(MAX):c.*603C>G rs117802316 0.01457
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_003002.4(SDHD):c.*532A>T rs146261846 0.01251
NM_002272.4(KRT4):c.*133C>T rs78282727 0.01188
NM_002272.4(KRT4):c.122G>A (p.Arg41Gln) rs36143766 0.01050
NM_002272.4(KRT4):c.678-3C>T rs73306189 0.01050
NM_002272.4(KRT4):c.404C>T (p.Thr135Met) rs17119475 0.01042
NM_002272.4(KRT4):c.267T>C (p.Phe89=) rs372168510 0.01016
NM_002272.4(KRT4):c.288G>A (p.Lys96=) rs372013854 0.00989
NM_153490.3(KRT13):c.177T>C (p.Ser59=) rs142246675 0.00900
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.*405G>A rs45440292 0.00825
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.*622A>G rs142510105 0.00694
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_153490.3(KRT13):c.735+6C>T rs181122697 0.00469
NM_002272.4(KRT4):c.456C>T (p.Ile152=) rs140582332 0.00421
NM_002382.5(MAX):c.-94G>C rs536235832 0.00379
NM_002272.4(KRT4):c.870G>A (p.Thr290=) rs189596654 0.00376
NM_017849.4(TMEM127):c.*1306C>T rs148119945 0.00371
NM_020975.6(RET):c.*1742G>A rs143369221 0.00349
NM_017849.4(TMEM127):c.-87C>T rs527792197 0.00319
NM_003002.4(SDHD):c.*186A>G rs183918321 0.00317
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.*1583G>A rs192065891 0.00300
NM_002272.4(KRT4):c.*81T>A rs572216995 0.00279
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_003001.4(SDHC):c.*1693G>A rs191417790 0.00250
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_002272.4(KRT4):c.623G>A (p.Arg208His) rs201795280 0.00223
NM_020975.6(RET):c.*1812C>A rs183817000 0.00220
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_003001.5(SDHC):c.*397G>A rs74124906 0.00189
NM_003001.5(SDHC):c.*518G>A rs375109418 0.00189
NM_002272.4(KRT4):c.205C>T (p.Arg69Ter) rs200860840 0.00183
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
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_002272.4(KRT4):c.*68C>T rs149040467 0.00159
NM_003002.4(SDHD):c.*369A>G rs200753024 0.00157
NM_153490.3(KRT13):c.1276G>A (p.Val426Ile) rs144967807 0.00157
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_017849.4(TMEM127):c.*2300G>A rs117655540 0.00153
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_003002.4(SDHD):c.*352C>G rs192900956 0.00137
NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys) rs192699667 0.00134
NM_003002.4(SDHD):c.*822T>C rs201472512 0.00133
NM_002272.4(KRT4):c.1080G>A (p.Arg360=) rs113928381 0.00131
NM_017849.4(TMEM127):c.*502C>T rs191970829 0.00128
NM_153490.3(KRT13):c.*274T>C rs141918873 0.00117
NM_020975.6(RET):c.*1130A>G rs572936041 0.00112
NM_002272.4(KRT4):c.1203C>T (p.Arg401=) rs199607128 0.00103
NM_002382.5(MAX):c.*616C>T rs192895631 0.00103
NM_020975.6(RET):c.-132G>T rs886046985 0.00103
NM_153490.3(KRT13):c.509C>G (p.Thr170Ser) rs148102980 0.00096
NM_002272.4(KRT4):c.361C>A (p.Pro121Thr) rs200831095 0.00094
NM_003001.4(SDHC):c.*1098T>C rs569588829 0.00094
NM_017849.4(TMEM127):c.-59C>T rs542087360 0.00093
NM_017849.4(TMEM127):c.*2291_*2292del rs566328757 0.00091
NM_017849.4(TMEM127):c.*57C>T rs147532087 0.00089
NM_002272.4(KRT4):c.1318C>T (p.Arg440Cys) rs200484321 0.00081
NM_020975.6(RET):c.1119G>A (p.Ala373=) rs113931414 0.00079
NM_153490.3(KRT13):c.409C>T (p.Arg137Cys) rs142183272 0.00078
NM_153490.3(KRT13):c.766G>A (p.Gly256Ser) rs140780704 0.00072
NM_002382.5(MAX):c.*1229C>T rs562514408 0.00066
NM_017849.4(TMEM127):c.*3209A>G rs186348610 0.00064
NM_017849.4(TMEM127):c.*2128C>A rs533813582 0.00061
NM_002272.4(KRT4):c.1495G>C (p.Gly499Arg) rs190897990 0.00056
NM_017849.4(TMEM127):c.*980G>A rs77989183 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_020975.6(RET):c.*1430A>G rs775114955 0.00053
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.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_017849.4(TMEM127):c.*1849T>G rs867431947 0.00046
NM_020975.6(RET):c.*576G>A rs185408658 0.00044
NM_020975.6(RET):c.*1644G>C rs117119161 0.00043
NM_002272.4(KRT4):c.224G>A (p.Gly75Glu) rs200665579 0.00041
NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro) rs139318123 0.00041
NM_002272.4(KRT4):c.548A>G (p.Asn183Ser) rs199768158 0.00039
NM_020975.6(RET):c.*1348G>A rs149252070 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_153490.3(KRT13):c.767G>A (p.Gly256Asp) rs150947773 0.00038
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu) rs377740271 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_002272.4(KRT4):c.766G>A (p.Val256Met) rs201754946 0.00035
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_002272.4(KRT4):c.*30T>A rs372075566 0.00033
NM_002382.5(MAX):c.*128T>A rs539193441 0.00029
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_153490.3(KRT13):c.-45C>A rs367712050 0.00029
NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys) rs146666963 0.00029
NM_002382.5(MAX):c.-18C>T rs201456746 0.00027
NM_002272.4(KRT4):c.1493T>C (p.Phe498Ser) rs377399080 0.00024
NM_002382.5(MAX):c.*1308C>T rs527697025 0.00024
NM_017849.4(TMEM127):c.*612C>T rs549115489 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_002272.4(KRT4):c.306C>T (p.Pro102=) rs373594963 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_153490.3(KRT13):c.765C>T (p.Val255=) rs147564962 0.00023
NM_002382.5(MAX):c.-80G>A rs886050634 0.00022
NM_017849.4(TMEM127):c.565C>T (p.Leu189=) rs146965678 0.00022
NM_020975.6(RET):c.*84G>A rs558718557 0.00022
NM_153490.3(KRT13):c.*228C>G rs574184263 0.00022
NM_153490.3(KRT13):c.947C>T (p.Thr316Ile) rs753928241 0.00022
NM_017849.4(TMEM127):c.*3396G>A rs762419401 0.00020
NM_017849.4(TMEM127):c.*3569C>T rs140274612 0.00020
NM_002382.5(MAX):c.*873T>C rs183467855 0.00019
NM_020975.6(RET):c.*1516C>T rs886985086 0.00019
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337 0.00019
NM_017849.4(TMEM127):c.*1257C>G rs574710319 0.00018
NM_002382.5(MAX):c.*1278C>T rs541851564 0.00017
NM_002382.5(MAX):c.*1123A>C rs552459072 0.00014
NM_002382.5(MAX):c.-98G>T rs556543602 0.00014
NM_017849.4(TMEM127):c.*2719G>A rs140164805 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 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_002382.5(MAX):c.*1276G>C rs748335228 0.00013
NM_002382.5(MAX):c.*503T>G rs886050633 0.00013
NM_017849.4(TMEM127):c.*1178A>G rs748572058 0.00012
NM_020975.6(RET):c.-51C>T rs765384640 0.00012
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667 0.00012
NM_002272.4(KRT4):c.873C>T (p.Ser291=) rs754647771 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_153490.3(KRT13):c.*268C>T rs188347004 0.00011
NM_002272.4(KRT4):c.*289G>A rs886049639 0.00010
NM_002272.4(KRT4):c.1419C>T (p.Ser473=) rs534019513 0.00010
NM_002272.4(KRT4):c.475G>A (p.Glu159Lys) rs188245182 0.00010
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_153490.3(KRT13):c.1238A>T (p.Asp413Val) rs200269035 0.00010
NM_153490.3(KRT13):c.815G>A (p.Arg272His) rs142526332 0.00010
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_002272.4(KRT4):c.1386G>A (p.Val462=) rs373947229 0.00009
NM_002382.5(MAX):c.*375G>A rs539220905 0.00009
NM_017849.4(TMEM127):c.*1638G>C rs753339060 0.00009
NM_017849.4(TMEM127):c.*3134C>T rs566067694 0.00009
NM_017849.4(TMEM127):c.*3584G>C rs370166706 0.00009
NM_153490.3(KRT13):c.637C>T (p.Arg213Trp) rs78223890 0.00009
NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys) rs367751022 0.00008
NM_002272.4(KRT4):c.31G>A (p.Gly11Arg) rs371421345 0.00008
NM_017849.4(TMEM127):c.*3025G>C rs886056430 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_001365951.3(KIF1B):c.*3644dup rs775451005 0.00007
NM_002272.4(KRT4):c.364C>G (p.Leu122Val) rs758695571 0.00007
NM_002382.5(MAX):c.*248A>T rs559154342 0.00007
NM_002382.5(MAX):c.*297C>T rs561525266 0.00007
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423 0.00007
NM_020975.6(RET):c.*1326T>C rs141016377 0.00007
NM_002272.4(KRT4):c.-51G>A rs531951809 0.00006
NM_002272.4(KRT4):c.1192C>T (p.His398Tyr) rs374654554 0.00006
NM_002272.4(KRT4):c.359C>A (p.Thr120Asn) rs201805600 0.00006
NM_002382.5(MAX):c.*320T>G rs750680125 0.00006
NM_002382.5(MAX):c.*534G>A rs886050632 0.00006
NM_017849.4(TMEM127):c.*2121G>T rs778493549 0.00006
NM_017849.4(TMEM127):c.*2875A>G rs915390483 0.00006
NM_017849.4(TMEM127):c.*3560G>T rs886056428 0.00006
NM_020975.6(RET):c.*1109T>C rs886047006 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.1649-4G>A rs369769303 0.00006
NM_001365951.3(KIF1B):c.*2032T>A rs190108168 0.00005
NM_002272.4(KRT4):c.466C>T (p.Gln156Ter) rs535497819 0.00005
NM_017849.4(TMEM127):c.*1723C>T rs551200730 0.00005
NM_017849.4(TMEM127):c.*1879G>A rs766485637 0.00005
NM_017849.4(TMEM127):c.*2800T>G rs1037492575 0.00005
NM_017849.4(TMEM127):c.*3271A>G rs569110562 0.00005
NM_017849.4(TMEM127):c.-220T>C rs886056452 0.00005
NM_020975.6(RET):c.*824G>T rs886047002 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_153490.3(KRT13):c.1133G>A (p.Arg378His) rs200309164 0.00005
NM_002272.4(KRT4):c.1204G>A (p.Val402Ile) rs772882487 0.00004
NM_002272.4(KRT4):c.1512C>A (p.Gly504=) rs573971498 0.00004
NM_002272.4(KRT4):c.405G>A (p.Thr135=) rs762792489 0.00004
NM_002272.4(KRT4):c.954T>C (p.Ile318=) rs770727989 0.00004
NM_002382.5(MAX):c.*942C>T rs886050630 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_017849.4(TMEM127):c.*16C>G rs1251288941 0.00004
NM_017849.4(TMEM127):c.*3049T>C rs1242736942 0.00004
NM_020975.6(RET):c.*1659T>C rs886047012 0.00004
NM_020975.6(RET):c.*1900C>A rs956882000 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) rs775842917 0.00004
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_020975.6(RET):c.603C>T (p.Ser201=) rs780120451 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_020975.6(RET):c.718G>C (p.Val240Leu) rs375120544 0.00004
NM_153490.3(KRT13):c.759G>C (p.Gln253His) rs766894151 0.00004
NM_153490.3(KRT13):c.869G>A (p.Arg290Gln) rs535020030 0.00004
NM_002272.4(KRT4):c.317C>G (p.Ala106Gly) rs753431318 0.00003
NM_002272.4(KRT4):c.513G>A (p.Leu171=) rs774677002 0.00003
NM_002272.4(KRT4):c.527C>T (p.Thr176Met) rs370759790 0.00003
NM_002272.4(KRT4):c.835-4G>T rs767441876 0.00003
NM_002272.4(KRT4):c.945C>T (p.Tyr315=) rs778125368 0.00003
NM_002272.4(KRT4):c.983C>T (p.Ala328Val) rs749943854 0.00003
NM_002382.5(MAX):c.*170C>T rs762709691 0.00003
NM_002382.5(MAX):c.*44G>A rs767990726 0.00003
NM_002382.5(MAX):c.-127G>A rs886050637 0.00003
NM_002382.5(MAX):c.-30C>G rs755465193 0.00003
NM_017849.4(TMEM127):c.*2503C>T rs886056435 0.00003
NM_017849.4(TMEM127):c.*2563G>A rs1483429634 0.00003
NM_017849.4(TMEM127):c.-242G>A rs886056453 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_020975.6(RET):c.*1212C>T rs551902553 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.2332G>A (p.Val778Ile) rs75686697 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_153490.3(KRT13):c.*175G>A rs1459808765 0.00003
NM_153490.3(KRT13):c.1028C>T (p.Ala343Val) rs199762312 0.00003
NM_153490.3(KRT13):c.1227C>T (p.Leu409=) rs149077503 0.00003
NM_153490.3(KRT13):c.1350C>T (p.Arg450=) rs140142101 0.00003
NM_153490.3(KRT13):c.291C>T (p.Gly97=) rs747752896 0.00003
NM_153490.3(KRT13):c.991C>T (p.Leu331=) rs771435962 0.00003
NM_002272.4(KRT4):c.*267G>A rs546884677 0.00002
NM_002272.4(KRT4):c.*496T>G rs753033796 0.00002
NM_002272.4(KRT4):c.1147G>A (p.Val383Met) rs751984023 0.00002
NM_002272.4(KRT4):c.193G>A (p.Val65Met) rs754420448 0.00002
NM_002382.5(MAX):c.*1035C>T rs1357628064 0.00002
NM_002382.5(MAX):c.*943G>A rs111875569 0.00002
NM_002382.5(MAX):c.295+10C>T rs375446224 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_017849.4(TMEM127):c.*1505A>G rs118172849 0.00002
NM_017849.4(TMEM127):c.*1620C>T rs886056440 0.00002
NM_017849.4(TMEM127):c.*2171C>T rs555968113 0.00002
NM_020975.6(RET):c.*1489G>A rs535080963 0.00002
NM_020975.6(RET):c.1920C>T (p.Ala640=) rs149768519 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys) rs1394162514 0.00002
NM_153490.3(KRT13):c.1352G>A (p.Arg451His) rs550693344 0.00002
NM_001365951.3(KIF1B):c.*1104C>T rs886044995 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_002272.4(KRT4):c.-54A>T rs369760401 0.00001
NM_002272.4(KRT4):c.1347-3C>T rs777376453 0.00001
NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg) rs771250577 0.00001
NM_002272.4(KRT4):c.457G>A (p.Asp153Asn) rs780754412 0.00001
NM_002272.4(KRT4):c.558C>G (p.Pro186=) rs766644080 0.00001
NM_002272.4(KRT4):c.677+4C>T rs886049642 0.00001
NM_002272.4(KRT4):c.678-10C>T rs777722293 0.00001
NM_002382.5(MAX):c.*1285T>C rs886050628 0.00001
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys) rs769555911 0.00001
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg) rs775350144 0.00001
NM_003001.4(SDHC):c.*1481G>A rs886045486 0.00001
NM_003001.4(SDHC):c.*1699A>G rs886045490 0.00001
NM_004168.3(SDHA):c.-63G>A rs886060513 0.00001
NM_017849.4(TMEM127):c.*1784C>T rs571939749 0.00001
NM_017849.4(TMEM127):c.*179C>T rs932134479 0.00001
NM_017849.4(TMEM127):c.*1822T>C rs144880727 0.00001
NM_017849.4(TMEM127):c.*2245A>G rs886056438 0.00001
NM_017849.4(TMEM127):c.*2299C>T rs896902158 0.00001
NM_017849.4(TMEM127):c.*2445G>T rs886056436 0.00001
NM_017849.4(TMEM127):c.*2518C>A rs1181236784 0.00001
NM_017849.4(TMEM127):c.*2760A>C rs886056431 0.00001
NM_017849.4(TMEM127):c.*2911C>T rs1461511429 0.00001
NM_017849.4(TMEM127):c.*3391G>A rs1260000636 0.00001
NM_017849.4(TMEM127):c.*340G>A rs1032246352 0.00001
NM_017849.4(TMEM127):c.*3568C>G rs886056427 0.00001
NM_017849.4(TMEM127):c.-196C>T rs886056451 0.00001
NM_017849.4(TMEM127):c.12C>T (p.Pro4=) rs1406470818 0.00001
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser) rs886056447 0.00001
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr) rs750870974 0.00001
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys) rs140860906 0.00001
NM_017849.4(TMEM127):c.654G>A (p.Glu218=) rs776822044 0.00001
NM_020975.6(RET):c.*1112A>G rs1353594500 0.00001
NM_020975.6(RET):c.*1533A>G rs1838409564 0.00001
NM_020975.6(RET):c.*175C>G rs886046990 0.00001
NM_020975.6(RET):c.-158G>A rs886046984 0.00001
NM_020975.6(RET):c.1162G>A (p.Val388Ile) rs776223166 0.00001
NM_020975.6(RET):c.1165C>T (p.Leu389Phe) rs895556824 0.00001
NM_020975.6(RET):c.1264-8C>T rs769595884 0.00001
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901 0.00001
NM_020975.6(RET):c.1601T>C (p.Leu534Pro) rs1206429429 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 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_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2939+7G>A rs374565577 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107 0.00001
NM_020975.6(RET):c.628G>A (p.Glu210Lys) rs1060500762 0.00001
NM_153490.3(KRT13):c.*74A>C rs886052907 0.00001
NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn) rs1265435884 0.00001
NM_153490.3(KRT13):c.337G>A (p.Asp113Asn) rs886052908 0.00001
NM_153490.3(KRT13):c.420C>T (p.His140=) rs530596803 0.00001
NM_153490.3(KRT13):c.449G>A (p.Arg150Gln) rs548070268 0.00001
NM_153490.3(KRT13):c.496-9A>G rs780820686 0.00001
NM_153490.3(KRT13):c.823G>A (p.Ala275Thr) rs767618537 0.00001
NM_153490.3(KRT13):c.844G>A (p.Glu282Lys) rs202057977 0.00001
NM_153490.3(KRT13):c.9C>T (p.Leu3=) rs185787290 0.00001
NM_001013625.4(CFAP126):c.*221del rs57914150
NM_001365951.3(KIF1B):c.*1363dup rs567435289
NM_001365951.3(KIF1B):c.*249CA[13] rs111663673
NM_001365951.3(KIF1B):c.*249CA[14] rs111663673
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.*249CA[17] rs111663673
NM_001365951.3(KIF1B):c.*249CA[18] rs111663673
NM_001365951.3(KIF1B):c.*249CA[19] rs111663673
NM_001365951.3(KIF1B):c.*281_*282dup rs886044986
NM_001365951.3(KIF1B):c.*281_*286del rs886044990
NM_001365951.3(KIF1B):c.*2978dup rs145348144
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.*454CT[1] rs886044993
NM_001365951.3(KIF1B):c.*4664_*4665insG rs571589510
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975
NM_002272.4(KRT4):c.*126C>A rs886049640
NM_002272.4(KRT4):c.*405G>A rs886049638
NM_002272.4(KRT4):c.1020G>C (p.Ser340=) rs7956809
NM_002272.4(KRT4):c.1072C>G (p.Leu358Val) rs1939839883
NM_002272.4(KRT4):c.1259G>A (p.Arg420His) rs377329227
NM_002272.4(KRT4):c.1346+15A>T rs931479
NM_002272.4(KRT4):c.1467C>A (p.Gly489=) rs1345230715
NM_002272.4(KRT4):c.186C>T (p.Ser62=) rs886049645
NM_002272.4(KRT4):c.25C>G (p.Arg9Gly) rs886049646
NM_002272.4(KRT4):c.353T>G (p.Leu118Trp) rs886049644
NM_002272.4(KRT4):c.463-9T>C rs886049643
NM_002272.4(KRT4):c.54C>G (p.Gly18=) rs748727199
NM_002272.4(KRT4):c.726G>A (p.Val242=) rs886049641
NM_002272.4(KRT4):c.741C>G (p.Asp247Glu) rs369593094
NM_002272.4(KRT4):c.801C>T (p.Asp267=) rs369207280
NM_002272.4(KRT4):c.834+2T>G rs937464890
NM_002382.5(MAX):c.*1023C>T rs886050629
NM_002382.5(MAX):c.*169T>C rs567680521
NM_002382.5(MAX):c.*344T>A rs561238353
NM_002382.5(MAX):c.*608CA[1] rs886050631
NM_002382.5(MAX):c.*65G>C rs566299166
NM_002382.5(MAX):c.*678C>T rs934021031
NM_002382.5(MAX):c.*700G>T rs139403325
NM_002382.5(MAX):c.*96C>G rs949792280
NM_002382.5(MAX):c.-110A>T rs886050636
NM_002382.5(MAX):c.-126AGTG[4] rs556734672
NM_002382.5(MAX):c.-126AGTG[6] rs556734672
NM_002382.5(MAX):c.-152TG[8] rs886050638
NM_002382.5(MAX):c.-99G>A rs570017996
NM_002382.5(MAX):c.37-15dup rs747340873
NM_002382.5(MAX):c.373A>C (p.Asn125His) rs2063062933
NM_003000.2(SDHB):c.-81G>T rs886045586
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003001.4(SDHC):c.*1012G>T rs886045484
NM_003001.4(SDHC):c.*1314C>A rs376293449
NM_003001.4(SDHC):c.*1332C>A rs886045485
NM_003001.4(SDHC):c.*1534G>T rs886045487
NM_003001.4(SDHC):c.*1584C>G rs886045488
NM_003001.4(SDHC):c.*1695G>T rs886045489
NM_003001.4(SDHC):c.*1784G>C rs886045491
NM_003001.4(SDHC):c.*1843C>A rs886045492
NM_003001.4(SDHC):c.*1898C>A rs886045493
NM_003001.4(SDHC):c.*2141C>A rs886045494
NM_003001.4(SDHC):c.*2236C>A rs886045495
NM_003001.4(SDHC):c.*2264G>T rs886045496
NM_003001.5(SDHC):c.*527G>T rs886045481
NM_003001.5(SDHC):c.21-10dup rs759481419
NM_003001.5(SDHC):c.406-13del rs752685687
NM_003002.4(SDHD):c.*340A>G rs201280702
NM_004168.3(SDHA):c.-84dup rs35805262
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_017841.4(SDHAF2):c.*113C>A rs886048416
NM_017841.4(SDHAF2):c.*170C>A rs886048417
NM_017841.4(SDHAF2):c.*172del rs537244040
NM_017841.4(SDHAF2):c.*627G>T rs886048422
NM_017841.4(SDHAF2):c.*653A>G rs886048423
NM_017841.4(SDHAF2):c.370+12G>A rs886048415
NM_017849.4(TMEM127):c.*1197T>C rs886056442
NM_017849.4(TMEM127):c.*1252C>G rs886056441
NM_017849.4(TMEM127):c.*1406G>A rs534881507
NM_017849.4(TMEM127):c.*1772G>A rs537225254
NM_017849.4(TMEM127):c.*1819C>A rs551671260
NM_017849.4(TMEM127):c.*1819C>G rs551671260
NM_017849.4(TMEM127):c.*1883_*1886dup rs886056439
NM_017849.4(TMEM127):c.*2101_*2103del rs3832113
NM_017849.4(TMEM127):c.*2270dup rs886056437
NM_017849.4(TMEM127):c.*2411C>A rs1158489118
NM_017849.4(TMEM127):c.*249G>A rs886056446
NM_017849.4(TMEM127):c.*2548T>C rs886056434
NM_017849.4(TMEM127):c.*2642C>T rs886056433
NM_017849.4(TMEM127):c.*2684C>G rs1684078512
NM_017849.4(TMEM127):c.*2717C>G rs886056432
NM_017849.4(TMEM127):c.*2860A>G rs1289173127
NM_017849.4(TMEM127):c.*2888del rs139762991
NM_017849.4(TMEM127):c.*3200GTT[2] rs141956691
NM_017849.4(TMEM127):c.*3348G>C rs886056429
NM_017849.4(TMEM127):c.*662G>A rs886056445
NM_017849.4(TMEM127):c.*674dup rs201871634
NM_017849.4(TMEM127):c.*760del rs371530522
NM_017849.4(TMEM127):c.*760dup rs371530522
NM_017849.4(TMEM127):c.*866C>T rs926874804
NM_017849.4(TMEM127):c.*883C>G rs886056443
NM_017849.4(TMEM127):c.*980G>C rs77989183
NM_017849.4(TMEM127):c.-114C>T rs1684402630
NM_017849.4(TMEM127):c.-131-7C>T rs886056450
NM_017849.4(TMEM127):c.-37A>G rs886056449
NM_017849.4(TMEM127):c.144C>T (p.Leu48=) rs1684391372
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.4(TMEM127):c.253A>C (p.Met85Leu) rs771261665
NM_017849.4(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_020975.6(RET):c.*1020G>T rs886047004
NM_020975.6(RET):c.*1046G>C rs143948954
NM_020975.6(RET):c.*1103C>T rs886047005
NM_020975.6(RET):c.*1233T>C rs886047007
NM_020975.6(RET):c.*1278del rs886047008
NM_020975.6(RET):c.*1337A>T rs886047009
NM_020975.6(RET):c.*1345G>T rs886047010
NM_020975.6(RET):c.*159G>T rs1838381962
NM_020975.6(RET):c.*1646T>G rs886047011
NM_020975.6(RET):c.*1797T>C rs886047013
NM_020975.6(RET):c.*1797T>G rs886047013
NM_020975.6(RET):c.*180G>A rs1838382247
NM_020975.6(RET):c.*1886T>G rs1019095754
NM_020975.6(RET):c.*358G>T rs886046991
NM_020975.6(RET):c.*368G>T rs756051983
NM_020975.6(RET):c.*446A>G rs886046992
NM_020975.6(RET):c.*453G>T rs886046993
NM_020975.6(RET):c.*492G>C rs568766449
NM_020975.6(RET):c.*499dup rs201945709
NM_020975.6(RET):c.*500C>G rs564665995
NM_020975.6(RET):c.*506G>T rs886046995
NM_020975.6(RET):c.*509A>G rs886046996
NM_020975.6(RET):c.*538G>T rs886046997
NM_020975.6(RET):c.*553G>T rs886046998
NM_020975.6(RET):c.*600delinsTT rs1588882236
NM_020975.6(RET):c.*749dup rs886047000
NM_020975.6(RET):c.*763C>T rs886047001
NM_020975.6(RET):c.*883G>A rs1838396430
NM_020975.6(RET):c.*935C>A rs886047003
NM_020975.6(RET):c.-160G>T rs567112195
NM_020975.6(RET):c.-173A>G rs1359755826
NM_020975.6(RET):c.-187C>A rs886046983
NM_020975.6(RET):c.1062T>C (p.Tyr354=) rs1837785673
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1326G>T (p.Leu442=) rs746055866
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1880-5C>A rs1838016447
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2403C>T (p.Leu801=) rs1554819519
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) rs138847998
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_020975.6(RET):c.2580G>A (p.Gln860=) rs886046988
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.484C>T (p.Pro162Ser) rs1564490122
NM_020975.6(RET):c.487C>A (p.Arg163=) rs371153966
NM_020975.6(RET):c.566G>A (p.Arg189His) rs753707182
NM_020975.6(RET):c.596A>G (p.Asn199Ser) rs886046986
NM_020975.6(RET):c.867+4C>G rs1837741280
NM_153490.3(KRT13):c.*162T>C rs1904829902
NM_153490.3(KRT13):c.*19C>T rs760565338
NM_153490.3(KRT13):c.*85C>T rs886052906
NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu) rs145983286
NM_153490.3(KRT13):c.1286G>A (p.Arg429His) rs150321809
NM_153490.3(KRT13):c.523C>G (p.Arg175Gly) rs764088068
NM_153490.3(KRT13):c.540T>C (p.Ile180=) rs755205284
NM_153490.3(KRT13):c.610G>A (p.Val204Met) rs138102206
NM_153490.3(KRT13):c.853G>A (p.Ala285Thr) rs1904920258
NR_073138.1(MAX):n.146C>G rs899541680

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