ClinVar Miner

List of variants reported as uncertain significance for Hirschsprung disease, susceptibility to, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_002253.4(KDR):c.2066C>T (p.Thr689Met) rs34038364 0.00307
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys) rs114144673 0.00186
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) rs150254638 0.00140
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_020975.6(RET):c.-132G>T rs886046985 0.00103
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_007199.3(IRAK3):c.1461del (p.Asn487fs) rs776951445 0.00071
NM_020975.6(RET):c.*1430A>G rs775114955 0.00053
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) rs41298555 0.00046
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg) rs143391519 0.00039
NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln) rs138450443 0.00035
NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His) rs201361018 0.00031
NM_001620.3(AHNAK):c.6539A>G (p.Lys2180Arg) rs200438956 0.00025
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.*84G>A rs558718557 0.00022
NM_020975.6(RET):c.*1516C>T rs886985086 0.00019
NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp) rs144875196 0.00018
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_020975.6(RET):c.-51C>T rs765384640 0.00012
NM_001384900.1(SEMA3D):c.592G>A (p.Glu198Lys) rs549337695 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.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg) rs540320780 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
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.961G>A (p.Gly321Arg) rs377767388 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_020975.6(RET):c.3026T>C (p.Met1009Thr) rs375213011 0.00007
NM_020975.6(RET):c.82G>A (p.Gly28Ser) rs779905135 0.00007
NM_020975.6(RET):c.*1109T>C rs886047006 0.00006
NM_020975.6(RET):c.1103G>A (p.Arg368His) rs199529397 0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 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_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) rs763489828 0.00006
NM_020975.6(RET):c.736C>A (p.His246Asn) rs780756440 0.00006
NM_020975.6(RET):c.*824G>T rs886047002 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.*1659T>C rs886047012 0.00004
NM_020975.6(RET):c.*1900C>A rs956882000 0.00004
NM_020975.6(RET):c.1094C>T (p.Ser365Leu) rs763670106 0.00004
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) rs775842917 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.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) rs34617196 0.00004
NM_020975.6(RET):c.2498G>A (p.Arg833His) rs587782636 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.3094G>A (p.Gly1032Ser) rs757373375 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 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.718G>C (p.Val240Leu) rs375120544 0.00004
NM_020975.6(RET):c.*1212C>T rs551902553 0.00003
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) rs377767433 0.00003
NM_020975.6(RET):c.1063A>G (p.Arg355Gly) rs145402131 0.00003
NM_020975.6(RET):c.1083C>A (p.Asn361Lys) rs770587835 0.00003
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) rs140638866 0.00003
NM_020975.6(RET):c.178C>T (p.Pro60Ser) rs748402485 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2332G>A (p.Val778Ile) rs75686697 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_020975.6(RET):c.*1489G>A rs535080963 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.1424G>A (p.Arg475Gln) rs138624658 0.00002
NM_020975.6(RET):c.1678C>T (p.Pro560Ser) rs748852160 0.00002
NM_020975.6(RET):c.1920C>T (p.Ala640=) rs149768519 0.00002
NM_020975.6(RET):c.2038G>A (p.Ala680Thr) rs184498773 0.00002
NM_020975.6(RET):c.2041C>G (p.Gln681Glu) rs567241943 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) rs377767422 0.00002
NM_020975.6(RET):c.2870C>T (p.Pro957Leu) rs1259087541 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.3233C>T (p.Thr1078Met) rs762952212 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517 0.00002
NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter) rs745310807 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.1008C>G (p.Asn336Lys) rs144981275 0.00001
NM_020975.6(RET):c.1030G>A (p.Gly344Ser) rs749883001 0.00001
NM_020975.6(RET):c.1052T>A (p.Val351Glu) rs749449032 0.00001
NM_020975.6(RET):c.1079G>A (p.Arg360Gln) rs762472027 0.00001
NM_020975.6(RET):c.1090A>G (p.Ile364Val) rs1308447836 0.00001
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) rs754116867 0.00001
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 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.1277G>A (p.Cys426Tyr) rs1387494484 0.00001
NM_020975.6(RET):c.1282G>A (p.Glu428Lys) rs1327111345 0.00001
NM_020975.6(RET):c.1352C>T (p.Thr451Met) rs774092678 0.00001
NM_020975.6(RET):c.1440A>T (p.Glu480Asp) rs763296134 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901 0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 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.1681A>C (p.Ser561Arg) rs201972250 0.00001
NM_020975.6(RET):c.1756C>T (p.Leu586Phe) rs777604634 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.1903C>T (p.Arg635Cys) rs377767410 0.00001
NM_020975.6(RET):c.1907C>T (p.Thr636Met) rs1035958105 0.00001
NM_020975.6(RET):c.1915G>A (p.Ala639Thr) rs777122776 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.199C>T (p.Arg67Cys) rs749390385 0.00001
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) rs770100231 0.00001
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316 0.00001
NM_020975.6(RET):c.2051C>T (p.Pro684Leu) rs760088950 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 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.2164A>G (p.Lys722Glu) rs1262183810 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) rs768217520 0.00001
NM_020975.6(RET):c.2249C>G (p.Ala750Gly) rs752830000 0.00001
NM_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.2485A>G (p.Ser829Gly) rs113005278 0.00001
NM_020975.6(RET):c.2486G>C (p.Ser829Thr) rs943720843 0.00001
NM_020975.6(RET):c.2496C>G (p.Ser832Arg) rs764979358 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_020975.6(RET):c.2544G>A (p.Met848Ile) rs772684105 0.00001
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) rs761130672 0.00001
NM_020975.6(RET):c.2548G>A (p.Asp850Asn) rs772862503 0.00001
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr) rs772862503 0.00001
NM_020975.6(RET):c.2815G>A (p.Val939Ile) rs1554819950 0.00001
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2887C>A (p.Leu963Ile) rs864622603 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.3027G>A (p.Met1009Ile) rs1007307889 0.00001
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880 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.3148C>G (p.Arg1050Gly) rs767479170 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) rs776615468 0.00001
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro) rs1305555370 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.3326T>C (p.Met1109Thr) rs587780813 0.00001
NM_020975.6(RET):c.3332C>T (p.Thr1111Met) rs1003057639 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_020975.6(RET):c.350C>A (p.Pro117His) rs763295929 0.00001
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107 0.00001
NM_020975.6(RET):c.451A>G (p.Asn151Asp) rs1837661067 0.00001
NM_020975.6(RET):c.464C>A (p.Pro155Gln) rs999019810 0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp) rs144801580 0.00001
NM_020975.6(RET):c.602G>C (p.Ser201Thr) rs898525501 0.00001
NM_020975.6(RET):c.628G>A (p.Glu210Lys) rs1060500762 0.00001
NM_020975.6(RET):c.677G>C (p.Arg226Pro) rs937818626 0.00001
NM_020975.6(RET):c.943A>C (p.Thr315Pro) rs774637214 0.00001
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079
NM_001276378.2(LZTFL1):c.-138+18184C>A rs1553617019
NM_001367949.2(FAT3):c.6916G>A (p.Val2306Ile) rs863223333
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro) rs863223332
NM_014361.4(CNTN5):c.3016G>A (p.Val1006Ile) rs200028794
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.*500C>G rs564665995
NM_020975.6(RET):c.*506G>T rs886046995
NM_020975.6(RET):c.*538G>T rs886046997
NM_020975.6(RET):c.*883G>A rs1838396430
NM_020975.6(RET):c.-173A>G rs1359755826
NM_020975.6(RET):c.1009G>A (p.Glu337Lys) rs1161270866
NM_020975.6(RET):c.1039G>A (p.Val347Met) rs1467660660
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.1264-5C>G rs9282835
NM_020975.6(RET):c.1295C>T (p.Ala432Val)
NM_020975.6(RET):c.1303G>A (p.Gly435Ser)
NM_020975.6(RET):c.1326G>T (p.Leu442=) rs746055866
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) rs539995816
NM_020975.6(RET):c.1412A>C (p.Lys471Thr) rs2132771245
NM_020975.6(RET):c.1567A>C (p.Lys523Gln) rs766278774
NM_020975.6(RET):c.1573C>G (p.Arg525Gly) rs545625150
NM_020975.6(RET):c.158T>C (p.Val53Ala)
NM_020975.6(RET):c.1592G>A (p.Cys531Tyr)
NM_020975.6(RET):c.1633C>A (p.Gln545Lys) rs890269439
NM_020975.6(RET):c.1783G>A (p.Glu595Lys) rs1483605155
NM_020975.6(RET):c.1820G>A (p.Gly607Asp)
NM_020975.6(RET):c.1880-5C>A rs1838016447
NM_020975.6(RET):c.1893C>A (p.Asp631Glu) rs55846256
NM_020975.6(RET):c.199C>G (p.Arg67Gly) rs749390385
NM_020975.6(RET):c.2003C>T (p.Pro668Leu) rs1482522995
NM_020975.6(RET):c.2077C>T (p.Arg693Cys)
NM_020975.6(RET):c.20G>A (p.Gly7Asp) rs1366681125
NM_020975.6(RET):c.2135T>C (p.Leu712Pro) rs760272063
NM_020975.6(RET):c.2254T>C (p.Tyr752His) rs984978805
NM_020975.6(RET):c.2297C>T (p.Pro766Leu) rs1017108031
NM_020975.6(RET):c.2305_2307delinsTTT (p.Leu769Phe)
NM_020975.6(RET):c.2331C>A (p.Asn777Lys)
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2403C>T (p.Leu801=) rs1554819519
NM_020975.6(RET):c.2419G>A (p.Ala807Thr) rs760012685
NM_020975.6(RET):c.2420C>T (p.Ala807Val) rs1554819523
NM_020975.6(RET):c.2453A>G (p.Glu818Gly)
NM_020975.6(RET):c.2476T>A (p.Tyr826Asn) rs1445590151
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) rs2132945857
NM_020975.6(RET):c.2515G>A (p.Asp839Asn)
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2542A>T (p.Met848Leu) rs794728685
NM_020975.6(RET):c.2561T>C (p.Phe854Ser) rs1838163624
NM_020975.6(RET):c.2566T>G (p.Trp856Gly) rs1838163811
NM_020975.6(RET):c.2590T>C (p.Tyr864His)
NM_020975.6(RET):c.2623T>G (p.Leu875Val) rs1588877642
NM_020975.6(RET):c.266A>G (p.Gln89Arg) rs1564489449
NM_020975.6(RET):c.2693A>T (p.Asp898Val)
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr) rs1838228352
NM_020975.6(RET):c.2952G>A (p.Met984Ile)
NM_020975.6(RET):c.2967G>T (p.Lys989Asn) rs2133016421
NM_020975.6(RET):c.3004A>G (p.Ser1002Gly)
NM_020975.6(RET):c.3033G>C (p.Lys1011Asn)
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp) rs945693739
NM_020975.6(RET):c.3142C>G (p.Leu1048Val) rs774347808
NM_020975.6(RET):c.3173A>T (p.Glu1058Val) rs780578577
NM_020975.6(RET):c.3177C>A (p.Asn1059Lys) rs1014122393
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.3241G>A (p.Asp1081Asn) rs745955777
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly) rs1564502609
NM_020975.6(RET):c.338-7T>G
NM_020975.6(RET):c.47T>A (p.Leu16Gln) rs1564480893
NM_020975.6(RET):c.484C>T (p.Pro162Ser) rs1564490122
NM_020975.6(RET):c.485C>G (p.Pro162Arg)
NM_020975.6(RET):c.487C>T (p.Arg163Trp) rs371153966
NM_020975.6(RET):c.518C>T (p.Ser173Phe)
NM_020975.6(RET):c.564C>A (p.Phe188Leu)
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.644G>A (p.Arg215His) rs748128929
NM_020975.6(RET):c.647G>A (p.Cys216Tyr)
NM_020975.6(RET):c.657C>G (p.Asp219Glu) rs1837729196
NM_020975.6(RET):c.712G>C (p.Glu238Gln)
NM_020975.6(RET):c.737A>T (p.His246Leu)
NM_020975.6(RET):c.757G>A (p.Val253Met) rs587780816
NM_020975.6(RET):c.760G>T (p.Val254Leu)
NM_020975.6(RET):c.796G>A (p.Asp266Asn) rs1554817823
NM_020975.6(RET):c.826G>T (p.Val276Phe) rs139213499
NM_020975.6(RET):c.830A>G (p.Asp277Gly)
NM_020975.6(RET):c.847G>C (p.Val283Leu)
NM_020975.6(RET):c.867+4C>G rs1837741280
NM_020975.6(RET):c.868-15C>G
NM_020975.6(RET):c.889C>T (p.Arg297Cys)
NM_020975.6(RET):c.898G>A (p.Asp300Asn) rs2132719351
NM_020975.6(RET):c.920C>T (p.Ser307Leu) rs1554817979
NM_020975.6(RET):c.950C>T (p.Thr317Met) rs760322514
NM_020975.6(RET):c.983C>T (p.Thr328Ile)

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