ClinVar Miner

List of variants studied for benign endocrine neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 341
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_020975.6(RET):c.626-41G>A rs572623103 0.00098
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_020975.6(RET):c.2939+13T>C rs149417158 0.00035
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_020975.6(RET):c.2673G>A (p.Ser891=) rs201620214 0.00027
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00018
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000545.8(HNF1A):c.-258A>G rs756136537 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.1668C>G (p.Ser556=) rs141771814 0.00014
NM_020975.6(RET):c.3006C>T (p.Ser1002=) rs370970483 0.00014
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00012
NM_020975.6(RET):c.398G>A (p.Arg133His) rs138265837 0.00012
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) rs549907428 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_020975.6(RET):c.1596C>T (p.Gly532=) rs144460361 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.3156C>T (p.Leu1052=) rs191769748 0.00008
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423 0.00007
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_020975.6(RET):c.1371A>T (p.Ser457=) rs376464605 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
NM_020975.6(RET):c.81G>A (p.Leu27=) rs369519655 0.00007
NM_020975.6(RET):c.82G>A (p.Gly28Ser) rs779905135 0.00007
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000551.3(VHL):c.-207C>T rs886057698 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_020975.6(RET):c.1103G>A (p.Arg368His) rs199529397 0.00006
NM_020975.6(RET):c.2305C>T (p.Leu769=) rs142793711 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2742A>G (p.Pro914=) rs375963128 0.00006
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) rs763489828 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_020975.6(RET):c.736C>A (p.His246Asn) rs780756440 0.00006
NM_020975.6(RET):c.1363G>A (p.Val455Ile) rs145966037 0.00005
NM_020975.6(RET):c.1476C>G (p.Thr492=) rs758249079 0.00005
NM_020975.6(RET):c.3059C>T (p.Ala1020Val) rs372191563 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_020975.6(RET):c.73+17G>T rs763327195 0.00005
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2124C>T (p.Ala708=) rs749646777 0.00004
NM_020975.6(RET):c.2290G>A (p.Ala764Thr) rs748799148 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=) rs577929869 0.00004
NM_020975.6(RET):c.2790G>A (p.Thr930=) rs746599792 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020975.6(RET):c.2932G>A (p.Glu978Lys) rs758800351 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) rs775583354 0.00004
NM_020975.6(RET):c.79T>C (p.Leu27=) rs377160777 0.00004
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) rs374848403 0.00003
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg) rs201928318 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_020975.6(RET):c.1312G>A (p.Val438Ile) rs774474422 0.00003
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) rs545625150 0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_020975.6(RET):c.178C>T (p.Pro60Ser) rs748402485 0.00003
NM_020975.6(RET):c.1879+18G>A rs368088386 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2284+15C>T rs768252806 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.2542A>G (p.Met848Val) rs794728685 0.00003
NM_020975.6(RET):c.897C>T (p.Phe299=) rs529153319 0.00003
NM_020975.6(RET):c.96G>A (p.Ser32=) rs139821724 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 0.00002
NM_000551.4(VHL):c.31G>C (p.Ala11Pro) rs1236604706 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.1253G>A (p.Arg418Gln) rs371731991 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1399G>C (p.Val467Leu) rs200334340 0.00002
NM_020975.6(RET):c.144G>A (p.Thr48=) rs759872307 0.00002
NM_020975.6(RET):c.2358T>C (p.His786=) rs758715544 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) rs1361265737 0.00002
NM_020975.6(RET):c.304G>A (p.Asp102Asn) rs201244749 0.00002
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile) rs200021472 0.00002
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.488G>A (p.Arg163Gln) rs149403911 0.00002
NM_020975.6(RET):c.682G>C (p.Ala228Pro) rs760813493 0.00002
NM_020975.6(RET):c.723C>T (p.Ala241=) rs544252468 0.00002
NM_020975.6(RET):c.731C>T (p.Thr244Ile) rs145970248 0.00002
NM_020975.6(RET):c.825C>T (p.Gly275=) rs150797149 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.40G>C (p.Gly14Arg) rs1060503559 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 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_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096 0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys) rs745732631 0.00001
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_020975.6(RET):c.1051G>A (p.Val351Ile) rs777716061 0.00001
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) rs754116867 0.00001
NM_020975.6(RET):c.1138G>A (p.Asp380Asn) rs1394361948 0.00001
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1263+19C>T rs371417381 0.00001
NM_020975.6(RET):c.138C>T (p.Ala46=) rs1177522214 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1649-7T>C rs758817204 0.00001
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960 0.00001
NM_020975.6(RET):c.1811C>T (p.Ala604Val) rs1286776938 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.199C>T (p.Arg67Cys) rs749390385 0.00001
NM_020975.6(RET):c.2005A>G (p.Ile669Val) rs776986585 0.00001
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) rs770100231 0.00001
NM_020975.6(RET):c.2078G>A (p.Arg693His) rs1332256523 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2162G>A (p.Arg721Gln) rs1356141763 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2182A>G (p.Lys728Glu) rs147216744 0.00001
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) rs768217520 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) rs1323183090 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.236G>A (p.Arg79Gln) rs1318325737 0.00001
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) rs761130672 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2679C>T (p.Phe893=) rs768188546 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2776C>G (p.His926Asp) rs774215008 0.00001
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.2996C>T (p.Ala999Val) rs748288493 0.00001
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) rs1438192223 0.00001
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) rs867206631 0.00001
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) rs1305293392 0.00001
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) rs569004816 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) rs370756353 0.00001
NM_020975.6(RET):c.3184T>C (p.Tyr1062His) rs138010639 0.00001
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) rs144730090 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.350C>A (p.Pro117His) rs763295929 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_020975.6(RET):c.517T>C (p.Ser173Pro) rs864622361 0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp) rs144801580 0.00001
NM_020975.6(RET):c.59C>A (p.Pro20Gln) rs1837067697 0.00001
NM_020975.6(RET):c.602G>C (p.Ser201Thr) rs898525501 0.00001
NM_020975.6(RET):c.625+11A>G rs778239396 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_020975.6(RET):c.677G>C (p.Arg226Pro) rs937818626 0.00001
NM_020975.6(RET):c.701G>A (p.Arg234Gln) rs756216318 0.00001
NM_020975.6(RET):c.750C>T (p.Arg250=) rs1013952995 0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala) rs541929171 0.00001
NM_020975.6(RET):c.890G>A (p.Arg297His) rs1480040525 0.00001
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000551.4(VHL):c.-10C>T rs1192379474
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.130G>C (p.Gly44Arg) rs1575921446
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe) rs786202185
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro) rs1592780294
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile) rs876658430
NM_020975.6(RET):c.1154G>T (p.Gly385Val) rs906695652
NM_020975.6(RET):c.1230C>G (p.Leu410=) rs995081128
NM_020975.6(RET):c.1253G>C (p.Arg418Pro) rs371731991
NM_020975.6(RET):c.1264-10G>A rs1837911590
NM_020975.6(RET):c.1264-5C>A rs9282835
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) rs794727875
NM_020975.6(RET):c.1311C>T (p.Asn437=) rs1190189942
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) rs539995816
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) rs1313331250
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) rs1194200337
NM_020975.6(RET):c.1617C>A (p.Gly539=) rs1554818648
NM_020975.6(RET):c.1648+14A>G rs1356301733
NM_020975.6(RET):c.1648+5G>A rs863224776
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) rs1837994115
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.186G>A (p.Glu62=) rs1588862529
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2089C>T (p.Leu697=) rs1588874416
NM_020975.6(RET):c.20G>A (p.Gly7Asp) rs1366681125
NM_020975.6(RET):c.2128A>G (p.Lys710Glu) rs3026760
NM_020975.6(RET):c.2262G>A (p.Thr754=) rs779080598
NM_020975.6(RET):c.2393-5C>T rs1554819512
NM_020975.6(RET):c.2433C>T (p.Ser811=) rs1290818295
NM_020975.6(RET):c.2450G>A (p.Arg817His) rs1345166214
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) rs2132945857
NM_020975.6(RET):c.2487T>C (p.Ser829=) rs2132946081
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2535C>T (p.Ala845=) rs377767425
NM_020975.6(RET):c.2607+3G>C rs752538741
NM_020975.6(RET):c.2700T>C (p.Tyr900=) rs1185622721
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) rs1588877711
NM_020975.6(RET):c.2985G>A (p.Arg995=) rs1252674267
NM_020975.6(RET):c.3022A>T (p.Met1008Leu) rs1554820077
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) rs368345402
NM_020975.6(RET):c.31C>T (p.Leu11=) rs587780812
NM_020975.6(RET):c.443C>T (p.Ser148Phe) rs1837660663
NM_020975.6(RET):c.445TTC[1] (p.Phe150del) rs776989694
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.452A>T (p.Asn151Ile) rs150261092
NM_020975.6(RET):c.565C>T (p.Arg189Cys) rs1210452561
NM_020975.6(RET):c.577G>T (p.Val193Leu) rs1008123818
NM_020975.6(RET):c.592C>T (p.Pro198Ser) rs76736111
NM_020975.6(RET):c.650C>A (p.Ala217Asp) rs1060500754
NM_020975.6(RET):c.810C>A (p.Pro270=) rs1160403666
NM_020975.6(RET):c.868-18G>T rs57098408
NM_020975.6(RET):c.921A>G (p.Ser307=) rs748294306
NM_020975.6(RET):c.960C>A (p.Pro320=) rs756761746
NM_020975.6(RET):c.960C>T (p.Pro320=) rs756761746

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