ClinVar Miner

List of variants studied for Hirschsprung Disease, Dominant

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ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_000514.4(GDNF):c.*1004T>C rs79370077
NM_000514.4(GDNF):c.*1141C>A rs2972929
NM_000514.4(GDNF):c.*1244A>G rs886060598
NM_000514.4(GDNF):c.*1264C>T rs62360370
NM_000514.4(GDNF):c.*1276A>G rs142426358
NM_000514.4(GDNF):c.*128_*133del rs886060603
NM_000514.4(GDNF):c.*131_*133GGA[10] rs150577324
NM_000514.4(GDNF):c.*1331G>C rs886060597
NM_000514.4(GDNF):c.*1389A>G rs78613670
NM_000514.4(GDNF):c.*1406G>A rs528922361
NM_000514.4(GDNF):c.*1534G>A rs886060596
NM_000514.4(GDNF):c.*1541T>A rs138502514
NM_000514.4(GDNF):c.*1587G>T rs886060595
NM_000514.4(GDNF):c.*1592G>T rs546517198
NM_000514.4(GDNF):c.*1605T>C rs3749692
NM_000514.4(GDNF):c.*1612C>A rs200969412
NM_000514.4(GDNF):c.*1627C>T rs748498805
NM_000514.4(GDNF):c.*1651A>G rs11111
NM_000514.4(GDNF):c.*1657C>A rs886060594
NM_000514.4(GDNF):c.*1693G>T rs188617599
NM_000514.4(GDNF):c.*1713C>T rs886060593
NM_000514.4(GDNF):c.*1785G>T rs115322727
NM_000514.4(GDNF):c.*1788G>A rs886060592
NM_000514.4(GDNF):c.*1898C>A rs547628776
NM_000514.4(GDNF):c.*1927C>T rs886060591
NM_000514.4(GDNF):c.*2014G>A rs530864008
NM_000514.4(GDNF):c.*2059C>T rs886060590
NM_000514.4(GDNF):c.*2067del rs886060589
NM_000514.4(GDNF):c.*2162G>T rs17379771
NM_000514.4(GDNF):c.*2204G>T rs72745194
NM_000514.4(GDNF):c.*2440G>A rs78865769
NM_000514.4(GDNF):c.*2556T>A rs886060588
NM_000514.4(GDNF):c.*2643C>T rs146664109
NM_000514.4(GDNF):c.*2651C>G rs369707461
NM_000514.4(GDNF):c.*2713G>A rs143311673
NM_000514.4(GDNF):c.*2828T>A rs200003002
NM_000514.4(GDNF):c.*2829_*2830del rs141939066
NM_000514.4(GDNF):c.*2883G>A rs77776214
NM_000514.4(GDNF):c.*346C>T rs753233921
NM_000514.4(GDNF):c.*363A>T rs45611434
NM_000514.4(GDNF):c.*529G>A rs58787312
NM_000514.4(GDNF):c.*532A>G rs886060602
NM_000514.4(GDNF):c.*717T>G rs753516612
NM_000514.4(GDNF):c.*807G>A rs886060601
NM_000514.4(GDNF):c.*907G>A rs751619765
NM_000514.4(GDNF):c.*912A>G rs886060600
NM_000514.4(GDNF):c.*93A>T rs45535335
NM_000514.4(GDNF):c.*958A>C rs886060599
NM_000514.4(GDNF):c.*988A>G rs79669773
NM_000514.4(GDNF):c.-227_-225CGG[6] rs554953764
NM_000514.4(GDNF):c.-51A>G rs2973033
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_020630.5(RET):c.-196C>A rs10900297
NM_020630.5(RET):c.-200A>G rs10900296
NM_020975.6(RET):c.*1020G>T rs886047004
NM_020975.6(RET):c.*1103C>T rs886047005
NM_020975.6(RET):c.*1109T>C rs886047006
NM_020975.6(RET):c.*1116T>C rs2435355
NM_020975.6(RET):c.*1130A>G rs572936041
NM_020975.6(RET):c.*1212C>T rs551902553
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.*1348G>A rs149252070
NM_020975.6(RET):c.*1489G>A rs535080963
NM_020975.6(RET):c.*1506G>A rs2742241
NM_020975.6(RET):c.*1558A>C rs142572876
NM_020975.6(RET):c.*1583G>A rs192065891
NM_020975.6(RET):c.*1591G>A rs76759170
NM_020975.6(RET):c.*1599G>A rs145954635
NM_020975.6(RET):c.*1644G>C rs117119161
NM_020975.6(RET):c.*1646T>G rs886047011
NM_020975.6(RET):c.*1659T>C rs886047012
NM_020975.6(RET):c.*1742G>A rs143369221
NM_020975.6(RET):c.*175C>G rs886046990
NM_020975.6(RET):c.*1797T>C rs886047013
NM_020975.6(RET):c.*1797T>G rs886047013
NM_020975.6(RET):c.*1870C>T rs146771196
NM_020975.6(RET):c.*1969T>C rs3026785
NM_020975.6(RET):c.*330A>G rs141460872
NM_020975.6(RET):c.*358G>T rs886046991
NM_020975.6(RET):c.*368G>T rs756051983
NM_020975.6(RET):c.*388G>A rs3026782
NM_020975.6(RET):c.*446A>G rs886046992
NM_020975.6(RET):c.*453G>T rs886046993
NM_020975.6(RET):c.*499dup rs201945709
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.*576G>A rs185408658
NM_020975.6(RET):c.*600delinsTT rs886046999
NM_020975.6(RET):c.*749dup rs886047000
NM_020975.6(RET):c.*763C>T rs886047001
NM_020975.6(RET):c.*824G>T rs886047002
NM_020975.6(RET):c.*84G>A rs558718557
NM_020975.6(RET):c.*935C>A rs886047003
NM_020975.6(RET):c.*95C>T rs17028
NM_020975.6(RET):c.-132G>T rs886046985
NM_020975.6(RET):c.-158G>A rs886046984
NM_020975.6(RET):c.-187C>A rs886046983
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1162G>A (p.Val388Ile) rs776223166
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) rs775842917
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293
NM_020975.6(RET):c.1760-12G>A rs377767392
NM_020975.6(RET):c.1879+14G>A rs532810255
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) rs138847998
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2580G>A (p.Gln860=) rs886046988
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209
NM_020975.6(RET):c.337+12G>A rs200468424
NM_020975.6(RET):c.337+9G>A rs2435351
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107
NM_020975.6(RET):c.596A>G (p.Asn199Ser) rs886046986
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238
NM_207034.2(EDN3):c.-248G>A rs542818479
NM_207034.2(EDN3):c.-268G>C rs868738564
NM_207034.2(EDN3):c.-359T>A rs886056871
NM_207034.3(EDN3):c.*1012C>T rs11570358
NM_207034.3(EDN3):c.*1111G>A rs886056888
NM_207034.3(EDN3):c.*1147A>G rs3026571
NM_207034.3(EDN3):c.*1255C>T rs12322
NM_207034.3(EDN3):c.*1271A>G rs886056889
NM_207034.3(EDN3):c.*1293T>C rs536369470
NM_207034.3(EDN3):c.*138_*139insCC rs886056876
NM_207034.3(EDN3):c.*1398C>T rs886056890
NM_207034.3(EDN3):c.*139_*140del rs1555850390
NM_207034.3(EDN3):c.*139del rs886056877
NM_207034.3(EDN3):c.*143C>A rs71321536
NM_207034.3(EDN3):c.*143C>T rs71321536
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.*148_*149del rs11475273
NM_207034.3(EDN3):c.*171G>A rs3026575
NM_207034.3(EDN3):c.*177C>A rs11570354
NM_207034.3(EDN3):c.*355A>G rs79786751
NM_207034.3(EDN3):c.*44T>C rs200872063
NM_207034.3(EDN3):c.*531A>G rs11570355
NM_207034.3(EDN3):c.*571A>G rs886056882
NM_207034.3(EDN3):c.*585C>T rs886056883
NM_207034.3(EDN3):c.*586G>A rs886056884
NM_207034.3(EDN3):c.*600A>G rs11570356
NM_207034.3(EDN3):c.*679A>G rs886056885
NM_207034.3(EDN3):c.*756C>T rs763311172
NM_207034.3(EDN3):c.*831G>A rs886056886
NM_207034.3(EDN3):c.*864C>G rs3026573
NM_207034.3(EDN3):c.*904A>G rs886056887
NM_207034.3(EDN3):c.*915C>T rs11570357
NM_207034.3(EDN3):c.*957C>T rs3026572
NM_207034.3(EDN3):c.*962C>T rs138371508
NM_207034.3(EDN3):c.*96G>A rs886056875
NM_207034.3(EDN3):c.-120C>T rs886056872
NM_207034.3(EDN3):c.-164G>A rs749699689
NM_207034.3(EDN3):c.-44C>T rs368814466
NM_207034.3(EDN3):c.-77T>A rs11570254
NM_207034.3(EDN3):c.-85G>A rs886056873
NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) rs761348961
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366
NM_207034.3(EDN3):c.543-7C>T rs886056874
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987
NM_207034.3(EDN3):c.689G>A (p.Arg230His) rs144250756

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