ClinVar Miner

List of variants reported as likely benign for Hirschsprung Disease, Dominant

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ClinVar version:
Total variants: 78
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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.*1264C>T rs62360370
NM_000514.4(GDNF):c.*1276A>G rs142426358
NM_000514.4(GDNF):c.*131_*133GGA[10] rs150577324
NM_000514.4(GDNF):c.*1389A>G rs78613670
NM_000514.4(GDNF):c.*1541T>A rs138502514
NM_000514.4(GDNF):c.*1651A>G rs11111
NM_000514.4(GDNF):c.*1785G>T rs115322727
NM_000514.4(GDNF):c.*1898C>A rs547628776
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.*2643C>T rs146664109
NM_000514.4(GDNF):c.*2713G>A rs143311673
NM_000514.4(GDNF):c.*2883G>A rs77776214
NM_000514.4(GDNF):c.*363A>T rs45611434
NM_000514.4(GDNF):c.*529G>A rs58787312
NM_000514.4(GDNF):c.*93A>T rs45535335
NM_000514.4(GDNF):c.*988A>G rs79669773
NM_000514.4(GDNF):c.-227_-225CGG[6] rs554953764
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_020975.6(RET):c.*1116T>C rs2435355
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.*1742G>A rs143369221
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.*388G>A rs3026782
NM_020975.6(RET):c.*499dup rs201945709
NM_020975.6(RET):c.*576G>A rs185408658
NM_020975.6(RET):c.*95C>T rs17028
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834
NM_020975.6(RET):c.1523-7C>T rs567967877
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.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863
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.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.654G>A (p.Pro218=) rs137928436
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_207034.2(EDN3):c.-248G>A rs542818479
NM_207034.3(EDN3):c.*1012C>T rs11570358
NM_207034.3(EDN3):c.*1147A>G rs3026571
NM_207034.3(EDN3):c.*143C>A rs71321536
NM_207034.3(EDN3):c.*146C>T rs11570352
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.*531A>G rs11570355
NM_207034.3(EDN3):c.*600A>G rs11570356
NM_207034.3(EDN3):c.*864C>G rs3026573
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.-77T>A rs11570254
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.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207034.3(EDN3):c.689G>A (p.Arg230His) rs144250756

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