ClinVar Miner

List of variants in gene GDNF studied for Hirschsprung disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000514.4(GDNF):c.*2213G>A rs2973051 0.69338
NM_000514.4(GDNF):c.*1605T>C rs3749692 0.52136
NM_000514.4(GDNF):c.-51A>G rs2973033 0.36519
NM_000514.4(GDNF):c.*2162G>T rs17379771 0.29955
NM_000514.4(GDNF):c.*1651A>G rs11111 0.22202
NM_000514.4(GDNF):c.*1264C>T rs62360370 0.05866
NM_000514.4(GDNF):c.*2883G>A rs77776214 0.04880
NM_000514.4(GDNF):c.*529G>A rs58787312 0.04641
NM_000514.4(GDNF):c.*2204G>T rs72745194 0.03446
NM_000514.4(GDNF):c.*1785G>T rs115322727 0.02975
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
NM_000514.4(GDNF):c.*1141C>A rs2972929 0.02126
NM_000514.4(GDNF):c.*1389A>G rs78613670 0.01508
NM_000514.4(GDNF):c.*988A>G rs79669773 0.01403
NM_000514.4(GDNF):c.*1693G>T rs188617599 0.00946
NM_000514.4(GDNF):c.*2713G>A rs143311673 0.00725
NM_000514.4(GDNF):c.*93A>T rs45535335 0.00564
NM_000514.4(GDNF):c.*363A>T rs45611434 0.00554
NM_000514.4(GDNF):c.*450C>T rs141395105 0.00496
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_000514.4(GDNF):c.*1406G>A rs528922361 0.00328
NM_000514.4(GDNF):c.*2440G>A rs78865769 0.00307
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_000514.4(GDNF):c.*2150T>G rs181589663 0.00263
NM_000514.4(GDNF):c.*1004T>C rs79370077 0.00261
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_000514.4(GDNF):c.*1541T>A rs138502514 0.00209
NM_000514.4(GDNF):c.*1592G>T rs546517198 0.00188
NM_000514.4(GDNF):c.*1276A>G rs142426358 0.00150
NM_000514.4(GDNF):c.*1782G>A rs147083416 0.00141
NM_000514.4(GDNF):c.*2014G>A rs530864008 0.00114
NM_000514.4(GDNF):c.*2267G>A rs577631751 0.00082
NM_000514.4(GDNF):c.*5G>A rs145996577 0.00045
NM_000514.4(GDNF):c.*1199A>T rs77668737 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_000514.4(GDNF):c.*532A>G rs886060602 0.00024
NM_000514.4(GDNF):c.*1246C>T rs565833757 0.00021
NM_000514.4(GDNF):c.*1713C>T rs886060593 0.00020
NM_000514.4(GDNF):c.*1534G>A rs886060596 0.00017
NM_000514.4(GDNF):c.*795C>T rs187004493 0.00016
NM_000514.4(GDNF):c.*1699G>C rs200330062 0.00015
NM_000514.4(GDNF):c.222A>G (p.Arg74=) rs139694199 0.00015
NM_000514.4(GDNF):c.*1627C>T rs748498805 0.00013
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln) rs772460903 0.00013
NM_000514.4(GDNF):c.633C>G (p.Ile211Met) rs121918536 0.00011
NM_000514.4(GDNF):c.*2651C>G rs369707461 0.00009
NM_000514.4(GDNF):c.*1898C>A rs547628776 0.00006
NM_000514.4(GDNF):c.*2318G>A rs773021483 0.00006
NM_000514.4(GDNF):c.447C>T (p.Cys149=) rs368244196 0.00006
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser) rs777451569 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_000514.4(GDNF):c.*717T>G rs753516612 0.00004
NM_000514.4(GDNF):c.*1375T>C rs566717310 0.00003
NM_000514.4(GDNF):c.*1587G>T rs886060595 0.00002
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_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.-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.460A>T (p.Thr154Ser) rs104893891
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079

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