ClinVar Miner

List of variants reported as uncertain significance for Hirschsprung disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 510
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HGVS dbSNP gnomAD frequency
NM_000514.4(GDNF):c.*2213G>A rs2973051 0.69338
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_001010848.4(NRG3):c.1986C>T (p.Ser662=) rs2295933 0.36600
NM_001318241.2(TBATA):c.666T>C (p.Ala222=) rs2254433 0.29892
NM_001352890.3(DENND3):c.1350C>T (p.Phe450=) rs2289001 0.26784
NM_001010848.4(NRG3):c.823+1856C>G rs1884282 0.13286
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=) rs17101196 0.09216
NM_016320.5(NUP98):c.2637G>A (p.Pro879=) rs35803045 0.05148
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001122659.3(EDNRB):c.*1310C>T rs3027095 0.01448
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000115.5(EDNRB):c.-225T>A rs142748526 0.00862
NM_000115.5(EDNRB):c.-64C>T rs140686455 0.00559
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_001122659.3(EDNRB):c.*296A>G rs12720203 0.00388
NM_207034.3(EDN3):c.*1147A>G rs3026571 0.00371
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_001122659.3(EDNRB):c.*2463T>C rs139792924 0.00322
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_000115.5(EDNRB):c.-228C>T rs144954195 0.00239
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_001122659.3(EDNRB):c.*1412C>T rs202238915 0.00226
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_001122659.3(EDNRB):c.*2258G>T rs186739277 0.00211
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
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_001122659.3(EDNRB):c.*1496G>A rs143210700 0.00099
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000514.4(GDNF):c.*2267G>A rs577631751 0.00082
NM_007199.3(IRAK3):c.1461del (p.Asn487fs) rs776951445 0.00071
NM_001122659.3(EDNRB):c.*2167C>G rs191136728 0.00056
NM_001122659.3(EDNRB):c.*2055A>G rs12720204 0.00054
NM_020975.6(RET):c.*1430A>G rs775114955 0.00053
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) rs41298555 0.00046
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001122659.3(EDNRB):c.*1513G>C rs200042120 0.00041
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg) rs143391519 0.00039
NM_000115.5(EDNRB):c.-160G>A rs538779808 0.00038
NM_000514.4(GDNF):c.*1612C>A rs200969412 0.00031
NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His) rs201361018 0.00031
NM_001122659.3(EDNRB):c.*2165C>T rs201086847 0.00029
NM_001122659.3(EDNRB):c.*2219A>G rs200177379 0.00026
NM_001620.3(AHNAK):c.6539A>G (p.Lys2180Arg) rs200438956 0.00025
NM_000514.4(GDNF):c.*532A>G rs886060602 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_001122659.3(EDNRB):c.*1481G>A rs200394800 0.00023
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln) rs138450443 0.00022
NM_020975.6(RET):c.*84G>A rs558718557 0.00022
NM_207034.3(EDN3):c.-164G>A rs749699689 0.00022
NM_000514.4(GDNF):c.*1246C>T rs565833757 0.00021
NM_001122659.3(EDNRB):c.*1600T>C rs201570543 0.00021
NM_000514.4(GDNF):c.*1713C>T rs886060593 0.00020
NM_020975.6(RET):c.*1516C>T rs886985086 0.00019
NM_001122659.3(EDNRB):c.*2047C>T rs199537579 0.00018
NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp) rs144875196 0.00018
NM_000514.4(GDNF):c.*1534G>A rs886060596 0.00017
NM_000514.4(GDNF):c.*795C>T rs187004493 0.00016
NM_001122659.3(EDNRB):c.*1662T>C rs202174312 0.00016
NM_000514.4(GDNF):c.*1699G>C rs200330062 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_000514.4(GDNF):c.*1627C>T rs748498805 0.00013
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln) rs772460903 0.00013
NM_020975.6(RET):c.-51C>T rs765384640 0.00012
NM_020975.6(RET):c.398G>A (p.Arg133His) rs138265837 0.00012
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys) rs772101978 0.00011
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_000514.4(GDNF):c.*2651C>G rs369707461 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.961G>A (p.Gly321Arg) rs377767388 0.00009
NM_207034.3(EDN3):c.-85G>A rs886056873 0.00009
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 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.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_207034.3(EDN3):c.-86G>A rs755284881 0.00008
NM_000115.5(EDNRB):c.-161C>T rs1045550076 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
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_000115.5(EDNRB):c.-153C>T rs569770148 0.00006
NM_000514.4(GDNF):c.*2318G>A rs773021483 0.00006
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser) rs777451569 0.00006
NM_001122659.3(EDNRB):c.*1844A>G rs201311811 0.00006
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln) rs200841053 0.00006
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.2305C>T (p.Leu769=) rs142793711 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 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_207034.3(EDN3):c.*916G>A rs1038241486 0.00006
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00006
NM_000514.4(GDNF):c.*807G>A rs886060601 0.00005
NM_000514.4(GDNF):c.-132G>C rs891094114 0.00005
NM_000514.4(GDNF):c.-42G>T rs1178630406 0.00005
NM_020975.6(RET):c.*824G>T rs886047002 0.00005
NM_020975.6(RET):c.1363G>A (p.Val455Ile) rs145966037 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_000514.4(GDNF):c.*717T>G rs753516612 0.00004
NM_001122659.3(EDNRB):c.*2064T>G rs200431243 0.00004
NM_001122659.3(EDNRB):c.*2309T>C rs200621629 0.00004
NM_001122659.3(EDNRB):c.*2452G>A rs200266252 0.00004
NM_001122659.3(EDNRB):c.*414G>A rs750626886 0.00004
NM_001122659.3(EDNRB):c.318T>C (p.Val106=) rs200777477 0.00004
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=) rs1050929 0.00004
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 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.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.2290G>A (p.Ala764Thr) rs748799148 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.3199C>T (p.Pro1067Ser) rs775583354 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_207034.3(EDN3):c.*585C>T rs886056883 0.00004
NM_207034.3(EDN3):c.*606A>C rs1421722806 0.00004
NM_207034.3(EDN3):c.*708C>T rs746433345 0.00004
NM_207034.3(EDN3):c.651C>T (p.Pro217=) rs748005608 0.00004
NM_000115.5(EDNRB):c.-52G>A rs1024731982 0.00003
NM_001122659.3(EDNRB):c.*1151T>A rs1321459235 0.00003
NM_001122659.3(EDNRB):c.*179G>A rs201848931 0.00003
NM_001122659.3(EDNRB):c.*1906G>A rs886050320 0.00003
NM_001122659.3(EDNRB):c.*2580C>T rs1033570814 0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=) rs375637651 0.00003
NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln) rs745883985 0.00003
NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn) rs374688808 0.00003
NM_020975.6(RET):c.*1212C>T rs551902553 0.00003
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) rs140638866 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+14G>A rs532810255 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 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.2542A>G (p.Met848Val) rs794728685 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.539G>A (p.Arg180Gln) rs370736139 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_207034.3(EDN3):c.*1255C>T rs12322 0.00003
NM_207034.3(EDN3):c.*586G>A rs886056884 0.00003
NM_207034.3(EDN3):c.*904A>G rs886056887 0.00003
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000514.4(GDNF):c.*1587G>T rs886060595 0.00002
NM_001122659.3(EDNRB):c.*1131T>C rs142394468 0.00002
NM_001122659.3(EDNRB):c.*1474G>A rs886050322 0.00002
NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser) rs200939685 0.00002
NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu) rs200548885 0.00002
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp) rs750291946 0.00002
NM_020975.6(RET):c.*1489G>A rs535080963 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.1424G>A (p.Arg475Gln) rs138624658 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.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) rs1361265737 0.00002
NM_020975.6(RET):c.2870C>T (p.Pro957Leu) rs1259087541 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.3233C>T (p.Thr1078Met) rs762952212 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.731C>T (p.Thr244Ile) rs145970248 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517 0.00002
NM_207034.3(EDN3):c.*1517C>A rs1010065773 0.00002
NM_207034.3(EDN3):c.*756C>T rs763311172 0.00002
NM_207034.3(EDN3):c.*963G>A rs559849084 0.00002
NM_207034.3(EDN3):c.-120C>T rs886056872 0.00002
NM_000115.5(EDNRB):c.-179C>T rs1881861243 0.00001
NM_000514.4(GDNF):c.*1244A>G rs886060598 0.00001
NM_000514.4(GDNF):c.*1657C>A rs886060594 0.00001
NM_000514.4(GDNF):c.*1788G>A rs886060592 0.00001
NM_000514.4(GDNF):c.*1927C>T rs886060591 0.00001
NM_000514.4(GDNF):c.*2265T>C rs1475344831 0.00001
NM_000514.4(GDNF):c.*346C>T rs753233921 0.00001
NM_000514.4(GDNF):c.*617A>G rs920356737 0.00001
NM_000514.4(GDNF):c.*907G>A rs751619765 0.00001
NM_000514.4(GDNF):c.*958A>C rs886060599 0.00001
NM_000514.4(GDNF):c.272G>A (p.Arg91Gln) rs769492137 0.00001
NM_001122659.3(EDNRB):c.*1860T>G rs886050321 0.00001
NM_001122659.3(EDNRB):c.*2292A>C rs759340051 0.00001
NM_001122659.3(EDNRB):c.*575A>G rs1320252107 0.00001
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325 0.00001
NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys) rs750396591 0.00001
NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu) rs201002254 0.00001
NM_001122659.3(EDNRB):c.483+15C>T rs936183003 0.00001
NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr) rs551874512 0.00001
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys) rs768905186 0.00001
NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter) rs745310807 0.00001
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln) rs775611332 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.1051G>A (p.Val351Ile) rs777716061 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.1138G>A (p.Asp380Asn) rs1394361948 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.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.1756C>T (p.Leu586Phe) rs777604634 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.1890C>T (p.Cys630=) rs781145070 0.00001
NM_020975.6(RET):c.1903C>T (p.Arg635Cys) rs377767410 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 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.2005A>G (p.Ile669Val) rs776986585 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.2070C>T (p.Ser690=) rs201550433 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.2164A>G (p.Lys722Glu) rs1262183810 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.2249C>G (p.Ala750Gly) rs752830000 0.00001
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) rs1323183090 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.236G>A (p.Arg79Gln) rs1318325737 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.2546G>A (p.Gly849Asp) rs761130672 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.2887C>A (p.Leu963Ile) rs864622603 0.00001
NM_020975.6(RET):c.2939+7G>A rs374565577 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.3027G>A (p.Met1009Ile) rs1007307889 0.00001
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) rs1438192223 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.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.3206G>C (p.Trp1069Ser) rs776615468 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.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 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.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.628G>A (p.Glu210Lys) rs1060500762 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_020975.6(RET):c.943A>C (p.Thr315Pro) rs774637214 0.00001
NM_207034.1(EDN3):c.*1546T>C rs574618871 0.00001
NM_207034.3(EDN3):c.*1398C>T rs886056890 0.00001
NM_207034.3(EDN3):c.*476G>A rs1292701180 0.00001
NM_207034.3(EDN3):c.*679A>G rs886056885 0.00001
NM_207034.3(EDN3):c.543-7C>T rs886056874 0.00001
NM_207034.3(EDN3):c.685C>T (p.Pro229Ser) rs757559436 0.00001
NM_000130.5(F5):c.1867A>G (p.Thr623Ala) rs1571577319
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000514.4(GDNF):c.*116G>T rs1749884263
NM_000514.4(GDNF):c.*131G>A rs868643238
NM_000514.4(GDNF):c.*1331G>C rs886060597
NM_000514.4(GDNF):c.*1360A>G rs1749830427
NM_000514.4(GDNF):c.*1433A>T rs1749826503
NM_000514.4(GDNF):c.*1540A>G rs1749823555
NM_000514.4(GDNF):c.*2059C>T rs886060590
NM_000514.4(GDNF):c.*2119C>G rs186253947
NM_000514.4(GDNF):c.*235G>T rs1749874092
NM_000514.4(GDNF):c.*2446G>A rs1749788877
NM_000514.4(GDNF):c.*2556T>A rs886060588
NM_000514.4(GDNF):c.*2646C>G rs929512571
NM_000514.4(GDNF):c.*2828T>A rs200003002
NM_000514.4(GDNF):c.*912A>G rs886060600
NM_000514.4(GDNF):c.-26G>T rs1348074191
NM_000514.4(GDNF):c.-34G>T rs536856799
NM_000514.4(GDNF):c.151+9C>G rs780518151
NM_000514.4(GDNF):c.390G>T (p.Leu130Phe) rs1749906739
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr) rs1453731006
NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser) rs1582614694
NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr) rs1571197028
NM_001122659.3(EDNRB):c.*1260G>A rs886050323
NM_001122659.3(EDNRB):c.*1302G>A rs1381062477
NM_001122659.3(EDNRB):c.*1514G>T rs201845371
NM_001122659.3(EDNRB):c.*1784A>G rs1285403588
NM_001122659.3(EDNRB):c.*2041T>C rs200276436
NM_001122659.3(EDNRB):c.*2355T>C rs886050319
NM_001122659.3(EDNRB):c.*2426A>C rs886050318
NM_001122659.3(EDNRB):c.*2665T>C rs1878575169
NM_001122659.3(EDNRB):c.*585G>C rs201012049
NM_001122659.3(EDNRB):c.*63G>A rs986500037
NM_001122659.3(EDNRB):c.*781G>T rs201115297
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln) rs1878741475
NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg) rs1261885036
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg) rs1878958050
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile) rs73547308
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=) rs1045303
NM_001367949.2(FAT3):c.6916G>A (p.Val2306Ile) rs863223333
NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn) rs1589906631
NM_001395413.1(POR):c.1222T>C (p.Ser408Pro) rs781842238
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_005264.8(GFRA1):c.1A>T (p.Met1Leu) rs1589930581
NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro) rs863223332
NM_006761.5(YWHAE):c.116T>C (p.Val39Ala) rs1598243579
NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr) rs1598243550
NM_014361.4(CNTN5):c.3016G>A (p.Val1006Ile) rs200028794
NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys) rs1596137692
NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=) rs1573707562
NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu) rs1578240731
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
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.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.1154G>T (p.Gly385Val) rs906695652
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.1264-5C>G rs9282835
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) rs794727875
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.1385C>T (p.Ser462Leu) rs1313331250
NM_020975.6(RET):c.1412A>C (p.Lys471Thr) rs2132771245
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) rs1194200337
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.1648+5G>A rs863224776
NM_020975.6(RET):c.1783G>A (p.Glu595Lys) rs1483605155
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) rs1837994115
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.2128A>G (p.Lys710Glu) rs3026760
NM_020975.6(RET):c.2135T>C (p.Leu712Pro) rs760272063
NM_020975.6(RET):c.2297C>T (p.Pro766Leu) rs1017108031
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.2420C>T (p.Ala807Val) rs1554819523
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.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.2566T>G (p.Trp856Gly) rs1838163811
NM_020975.6(RET):c.2607+3G>C rs752538741
NM_020975.6(RET):c.2623T>G (p.Leu875Val) rs1588877642
NM_020975.6(RET):c.2693A>T (p.Asp898Val)
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) rs1588877711
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr) rs1838228352
NM_020975.6(RET):c.3004A>G (p.Ser1002Gly)
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.3137C>A (p.Ala1046Asp) rs945693739
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly) rs1564502609
NM_020975.6(RET):c.338-7T>G
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.47T>A (p.Leu16Gln) rs1564480893
NM_020975.6(RET):c.484C>T (p.Pro162Ser) rs1564490122
NM_020975.6(RET):c.564C>A (p.Phe188Leu)
NM_020975.6(RET):c.565C>T (p.Arg189Cys) rs1210452561
NM_020975.6(RET):c.566G>A (p.Arg189His) rs753707182
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.596A>G (p.Asn199Ser) rs886046986
NM_020975.6(RET):c.650C>A (p.Ala217Asp) rs1060500754
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.796G>A (p.Asp266Asn) rs1554817823
NM_020975.6(RET):c.826G>T (p.Val276Phe) rs139213499
NM_020975.6(RET):c.847G>C (p.Val283Leu)
NM_020975.6(RET):c.867+4C>G rs1837741280
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.960C>A (p.Pro320=) rs756761746
NM_020975.6(RET):c.983C>T (p.Thr328Ile)
NM_031200.3(CCR9):c.3G>T (p.Met1Ile) rs1553617019
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter) rs1581415304
NM_032634.4(PIGO):c.449G>T (p.Gly150Val) rs1587176408
NM_207034.3(EDN3):c.*1111G>A rs886056888
NM_207034.3(EDN3):c.*1123G>A rs376536945
NM_207034.3(EDN3):c.*1176C>T rs1990796585
NM_207034.3(EDN3):c.*1271A>G rs886056889
NM_207034.3(EDN3):c.*143C>G rs71321536
NM_207034.3(EDN3):c.*143C>T rs71321536
NM_207034.3(EDN3):c.*144C>A rs886056880
NM_207034.3(EDN3):c.*144C>T rs886056880
NM_207034.3(EDN3):c.*145C>A rs886056881
NM_207034.3(EDN3):c.*147C>G rs576673862
NM_207034.3(EDN3):c.*147C>T rs576673862
NM_207034.3(EDN3):c.*571A>G rs886056882
NM_207034.3(EDN3):c.*716C>G rs531531144
NM_207034.3(EDN3):c.*96G>A rs886056875
NM_207034.3(EDN3):c.-115G>A rs1413431743
NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) rs761348961
NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.623T>C (p.Leu208Ser) rs1306262526
NM_207034.3(EDN3):c.689G>A (p.Arg230His) rs144250756

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