ClinVar Miner

List of variants studied for intestinal motility disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 479
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.*1506G>A rs2742241 0.83094
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_000514.4(GDNF):c.*2213G>A rs2973051 0.69338
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) rs5351 0.58046
NM_000514.4(GDNF):c.*1605T>C rs3749692 0.52136
NM_003924.4(PHOX2B):c.*1364G>A rs6826373 0.43664
NM_015634.4(KIFBP):c.*422A>C rs6864 0.42385
NM_000514.4(GDNF):c.-51A>G rs2973033 0.36519
NM_000514.4(GDNF):c.*2162G>T rs17379771 0.29955
NM_003924.4(PHOX2B):c.*1387C>T rs11723860 0.26435
NM_000514.4(GDNF):c.*1651A>G rs11111 0.22202
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_003924.4(PHOX2B):c.*674dup rs397840867 0.15674
NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) rs16926021 0.05950
NM_000514.4(GDNF):c.*1264C>T rs62360370 0.05866
NM_015634.4(KIFBP):c.*415C>T rs1058645 0.05632
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) rs35893997 0.04974
NM_000514.4(GDNF):c.*2883G>A rs77776214 0.04880
NM_003924.4(PHOX2B):c.*1662A>T rs1063611 0.04731
NM_000514.4(GDNF):c.*529G>A rs58787312 0.04641
NM_003924.4(PHOX2B):c.*1347A>G rs62412180 0.04283
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_003924.4(PHOX2B):c.*600T>G rs73139116 0.03760
NM_020975.6(RET):c.*1591G>A rs76759170 0.03751
NM_000514.4(GDNF):c.*2204G>T rs72745194 0.03446
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_000514.4(GDNF):c.*1785G>T rs115322727 0.02975
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_000514.4(GDNF):c.*1141C>A rs2972929 0.02126
NM_001122659.3(EDNRB):c.*1546A>G rs3027094 0.01879
NM_207034.3(EDN3):c.*915C>T rs11570357 0.01818
NM_207034.3(EDN3):c.*957C>T rs3026572 0.01630
NM_207034.3(EDN3):c.*864C>G rs3026573 0.01621
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000514.4(GDNF):c.*1389A>G rs78613670 0.01508
NM_001122659.3(EDNRB):c.*1310C>T rs3027095 0.01448
NM_207034.3(EDN3):c.*1012C>T rs11570358 0.01437
NM_000115.5(EDNRB):c.-205G>A rs12720104 0.01434
NM_003924.4(PHOX2B):c.*1381C>T rs59260453 0.01423
NM_000514.4(GDNF):c.*988A>G rs79669773 0.01403
NM_001122659.3(EDNRB):c.*903G>A rs9600947 0.01157
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_003924.4(PHOX2B):c.*161G>A rs114290493 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_000115.5(EDNRB):c.-206C>T rs12720103 0.01017
NM_000514.4(GDNF):c.*1693G>T rs188617599 0.00946
NM_207034.3(EDN3):c.*600A>G rs11570356 0.00906
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_000115.5(EDNRB):c.-225T>A rs142748526 0.00862
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_000514.4(GDNF):c.*2713G>A rs143311673 0.00725
NM_207034.3(EDN3):c.*165A>G rs11570353 0.00713
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_020975.6(RET):c.*330A>G rs141460872 0.00640
NM_003924.4(PHOX2B):c.*80G>A rs75913938 0.00612
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_207034.3(EDN3):c.-77T>A rs11570254 0.00577
NM_000514.4(GDNF):c.*93A>T rs45535335 0.00564
NM_000115.5(EDNRB):c.-64C>T rs140686455 0.00559
NM_000514.4(GDNF):c.*363A>T rs45611434 0.00554
NM_020975.6(RET):c.*1870C>T rs146771196 0.00539
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) rs41279644 0.00520
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_000514.4(GDNF):c.*450C>T rs141395105 0.00496
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366 0.00474
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.*278T>A rs73810341 0.00395
NM_001122659.3(EDNRB):c.*296A>G rs12720203 0.00388
NM_207034.3(EDN3):c.*1147A>G rs3026571 0.00371
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_003924.4(PHOX2B):c.*1126C>G rs118046131 0.00341
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_000514.4(GDNF):c.*1406G>A rs528922361 0.00328
NM_001122659.3(EDNRB):c.*2463T>C rs139792924 0.00322
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000514.4(GDNF):c.*2440G>A rs78865769 0.00307
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_020975.6(RET):c.*1583G>A rs192065891 0.00300
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_020975.6(RET):c.*1599G>A rs145954635 0.00265
NM_000514.4(GDNF):c.*2150T>G rs181589663 0.00263
NM_000514.4(GDNF):c.*1004T>C rs79370077 0.00261
NM_020975.6(RET):c.*1558A>C rs142572876 0.00260
NM_000115.5(EDNRB):c.-228C>T rs144954195 0.00239
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_001122659.3(EDNRB):c.*1412C>T rs202238915 0.00226
NM_020975.6(RET):c.*1812C>A rs183817000 0.00220
NM_001122659.3(EDNRB):c.*2258G>T rs186739277 0.00211
NM_000514.4(GDNF):c.*1541T>A rs138502514 0.00209
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
NM_000514.4(GDNF):c.*1592G>T rs546517198 0.00188
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000514.4(GDNF):c.*1276A>G rs142426358 0.00150
NM_000514.4(GDNF):c.*1782G>A rs147083416 0.00141
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_003924.4(PHOX2B):c.*60G>A rs558416040 0.00131
NM_000514.4(GDNF):c.*2014G>A rs530864008 0.00114
NM_020975.6(RET):c.*1130A>G rs572936041 0.00112
NM_015634.4(KIFBP):c.1326A>G (p.Arg442=) rs143815412 0.00110
NM_020975.6(RET):c.-132G>T rs886046985 0.00103
NM_001122659.3(EDNRB):c.*1496G>A rs143210700 0.00099
NM_207034.3(EDN3):c.*177C>A rs11570354 0.00096
NM_207034.3(EDN3):c.*171G>A rs3026575 0.00092
NM_000514.4(GDNF):c.*2267G>A rs577631751 0.00082
NM_020975.6(RET):c.1119G>A (p.Ala373=) rs113931414 0.00079
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
NM_003924.4(PHOX2B):c.*214A>G rs994949118 0.00068
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_207034.3(EDN3):c.*44T>C rs200872063 0.00068
NM_003924.4(PHOX2B):c.*1486T>C rs530550940 0.00065
NM_207034.3(EDN3):c.-44C>T rs368814466 0.00062
NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344 0.00059
NM_015634.4(KIFBP):c.1399C>T (p.Leu467=) rs142011043 0.00058
NM_001122659.3(EDNRB):c.*2167C>G rs191136728 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_001122659.3(EDNRB):c.*2055A>G rs12720204 0.00054
NM_001613.4(ACTA2):c.*28A>T rs143005546 0.00054
NM_020975.6(RET):c.*1430A>G rs775114955 0.00053
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_003924.4(PHOX2B):c.*693C>T rs535962589 0.00051
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_000514.4(GDNF):c.*5G>A rs145996577 0.00045
NM_020975.6(RET):c.*576G>A rs185408658 0.00044
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_020975.6(RET):c.*1644G>C rs117119161 0.00043
NM_015634.4(KIFBP):c.*451T>C rs968407883 0.00042
NM_001122659.3(EDNRB):c.*1513G>C rs200042120 0.00041
NM_015634.4(KIFBP):c.48G>T (p.Ala16=) rs201777829 0.00041
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 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_000115.5(EDNRB):c.-160G>A rs538779808 0.00038
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_000514.4(GDNF):c.*1199A>T rs77668737 0.00033
NM_001141945.3(ACTA2):c.-23-3831T>C rs552541075 0.00033
NM_000514.4(GDNF):c.*1612C>A rs200969412 0.00031
NM_000514.4(GDNF):c.292G>T (p.Ala98Ser) rs141837966 0.00029
NM_001122659.3(EDNRB):c.*2165C>T rs201086847 0.00029
NM_003924.4(PHOX2B):c.*737C>T rs745503233 0.00029
NM_001122659.3(EDNRB):c.*2219A>G rs200177379 0.00026
NM_000514.4(GDNF):c.*532A>G rs886060602 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_001122659.3(EDNRB):c.*1481G>A rs200394800 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_015634.4(KIFBP):c.*20G>A rs201287646 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_000043.6(FAS):c.-10C>A rs200181814 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_001122659.3(EDNRB):c.*2047C>T rs199537579 0.00018
NM_000514.4(GDNF):c.*1534G>A rs886060596 0.00017
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855 0.00017
NM_207034.3(EDN3):c.*355A>G rs79786751 0.00017
NC_000010.11:g.88935065C>T rs367977687 0.00016
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_001613.4(ACTA2):c.174C>T (p.Asp58=) rs150547139 0.00015
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_015634.4(KIFBP):c.963C>T (p.Leu321=) rs201076497 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_207034.3(EDN3):c.*531A>G rs11570355 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_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_020975.6(RET):c.-51C>T rs765384640 0.00012
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667 0.00012
NM_003924.4(PHOX2B):c.*18G>A rs776498322 0.00011
NM_003924.4(PHOX2B):c.*19C>A rs770841700 0.00011
NM_015634.4(KIFBP):c.116C>G (p.Ala39Gly) rs372223602 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 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_000514.4(GDNF):c.*2651C>G rs369707461 0.00009
NM_003924.4(PHOX2B):c.*1310G>T rs180795407 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_003924.4(PHOX2B):c.729A>G (p.Ala243=) rs751829128 0.00008
NM_015634.4(KIFBP):c.*523C>T rs980209545 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_207034.3(EDN3):c.-86G>A rs755284881 0.00008
NM_000115.5(EDNRB):c.-161C>T rs1045550076 0.00007
NM_020975.6(RET):c.*1326T>C rs141016377 0.00007
NM_000115.5(EDNRB):c.-153C>T rs569770148 0.00006
NM_000514.4(GDNF):c.*1898C>A rs547628776 0.00006
NM_000514.4(GDNF):c.*2318G>A rs773021483 0.00006
NM_001122659.3(EDNRB):c.*1844A>G rs201311811 0.00006
NM_003924.4(PHOX2B):c.*1627G>A rs886059411 0.00006
NM_003924.4(PHOX2B):c.*1701A>G rs886059409 0.00006
NM_003924.4(PHOX2B):c.*550G>A rs577950819 0.00006
NM_003924.4(PHOX2B):c.-105G>A rs538445545 0.00006
NM_015634.4(KIFBP):c.1615G>A (p.Val539Ile) rs561448573 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_207034.3(EDN3):c.*757G>A rs57724975 0.00006
NM_207034.3(EDN3):c.*916G>A rs1038241486 0.00006
NM_207034.3(EDN3):c.*962C>T rs138371508 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_003924.4(PHOX2B):c.*638G>C rs544491872 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_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_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614 0.00004
NM_003924.3(PHOX2B):c.-195G>A rs775569375 0.00004
NM_003924.4(PHOX2B):c.*1582T>C rs921963841 0.00004
NM_015634.4(KIFBP):c.*133G>C rs149549024 0.00004
NM_015634.4(KIFBP):c.1325G>C (p.Arg442Thr) rs764557349 0.00004
NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr) rs374731910 0.00004
NM_015634.4(KIFBP):c.322A>G (p.Thr108Ala) rs768592975 0.00004
NM_015634.4(KIFBP):c.781A>G (p.Ile261Val) rs749110699 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.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.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_000514.4(GDNF):c.*1375T>C rs566717310 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_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_015634.4(KIFBP):c.1848C>A (p.Thr616=) rs371537907 0.00003
NM_015634.4(KIFBP):c.66G>A (p.Val22=) rs368452753 0.00003
NM_015634.4(KIFBP):c.990+11C>T rs570851893 0.00003
NM_020975.6(RET):c.*1212C>T rs551902553 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_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_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_001613.4(ACTA2):c.369+7A>G rs760471677 0.00002
NM_015634.4(KIFBP):c.121G>C (p.Ala41Pro) rs757781374 0.00002
NM_015634.4(KIFBP):c.60G>C (p.Ser20=) rs773495989 0.00002
NM_015634.4(KIFBP):c.718G>A (p.Glu240Lys) rs547582634 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_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_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 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_001613.4(ACTA2):c.*43A>G rs886047452 0.00001
NM_001613.4(ACTA2):c.-56C>T rs886047454 0.00001
NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln) rs886047453 0.00001
NM_001613.4(ACTA2):c.258+5G>T rs1304133915 0.00001
NM_001613.4(ACTA2):c.808+14G>A rs774120023 0.00001
NM_003924.3(PHOX2B):c.-210C>A rs886059414 0.00001
NM_003924.4(PHOX2B):c.*1401C>G rs781647693 0.00001
NM_003924.4(PHOX2B):c.*1644A>T rs886059410 0.00001
NM_015634.4(KIFBP):c.858C>T (p.Ile286=) rs757772205 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_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_000115.5(EDNRB):c.-121G>T rs12720105
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.*2643C>T rs146664109
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.-34G>T rs536856799
NM_000514.4(GDNF):c.151+9C>G rs780518151
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.*781G>T rs201115297
NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg) rs1261885036
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001141945.3(ACTA2):c.-23-3850C>G rs1846074147
NM_001141945.3(ACTA2):c.-23-3869A>G rs886047455
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_001613.4(ACTA2):c.*104C>G rs956182522
NM_001613.4(ACTA2):c.*105G>T rs149059995
NM_001613.4(ACTA2):c.*122T>C rs886047451
NM_001613.4(ACTA2):c.24T>G (p.Thr8=) rs1589400483
NM_001613.4(ACTA2):c.456C>T (p.Gly152=) rs1845848773
NM_001613.4(ACTA2):c.645G>A (p.Lys215=) rs1053760032
NM_001615.4(ACTG2):c.28G>A (p.Val10Met)
NM_003924.3(PHOX2B):c.-159C>T rs887117495
NM_003924.3(PHOX2B):c.-265G>A rs886059415
NM_003924.4(PHOX2B):c.*1156C>A rs560413438
NM_003924.4(PHOX2B):c.*1269A>G rs886059412
NM_003924.4(PHOX2B):c.*12GCG[4] rs763380864
NM_003924.4(PHOX2B):c.*12GCG[8] rs763380864
NM_003924.4(PHOX2B):c.*1334G>C rs1733823205
NM_003924.4(PHOX2B):c.*1345G>T rs1560464984
NM_003924.4(PHOX2B):c.*161G>C rs114290493
NM_003924.4(PHOX2B):c.*194C>T rs186778106
NM_003924.4(PHOX2B):c.*301C>G rs1303150051
NM_003924.4(PHOX2B):c.*549dup rs201654270
NM_003924.4(PHOX2B):c.*58G>C rs886059413
NM_003924.4(PHOX2B):c.*680C>G rs1560465172
NM_003924.4(PHOX2B):c.*789G>A rs1733838098
NM_003924.4(PHOX2B):c.*838A>G rs367652707
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr) rs1733979302
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) rs764470906
NM_015634.4(KIFBP):c.*233C>G rs1359347457
NM_015634.4(KIFBP):c.*271T>C rs1839011438
NM_015634.4(KIFBP):c.*306A>G rs906078001
NM_015634.4(KIFBP):c.*39T>A rs756615646
NM_015634.4(KIFBP):c.*486G>A rs752736908
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_015634.4(KIFBP):c.1373C>T (p.Thr458Ile) rs1457900956
NM_015634.4(KIFBP):c.1666A>C (p.Lys556Gln) rs1839004363
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) rs2255607
NM_015634.4(KIFBP):c.202G>C (p.Gly68Arg) rs201068859
NM_015634.4(KIFBP):c.301C>T (p.Leu101Phe) rs1339934594
NM_015634.4(KIFBP):c.318C>T (p.Ile106=) rs1248105995
NM_015634.4(KIFBP):c.875-10T>C rs1843582622
NM_020975.6(RET):c.*1046G>C rs143948954
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.*492G>C rs568766449
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.-160G>T rs567112195
NM_020975.6(RET):c.-173A>G rs1359755826
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.2523G>T (p.Pro841=) rs56195026
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_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.*1293T>C rs536369470
NM_207034.3(EDN3):c.*143C>A rs71321536
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.*146C>T rs11570352
NM_207034.3(EDN3):c.*147C>G rs576673862
NM_207034.3(EDN3):c.*147C>T rs576673862
NM_207034.3(EDN3):c.*149C>A rs565501608
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.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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