ClinVar Miner

List of variants in gene GDNF reported as uncertain significance for Hirschsprung Disease, Dominant

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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_000514.4(GDNF):c.*1244A>G rs886060598
NM_000514.4(GDNF):c.*128_*133del rs886060603
NM_000514.4(GDNF):c.*1331G>C rs886060597
NM_000514.4(GDNF):c.*1406G>A rs528922361
NM_000514.4(GDNF):c.*1534G>A rs886060596
NM_000514.4(GDNF):c.*1587G>T rs886060595
NM_000514.4(GDNF):c.*1592G>T rs546517198
NM_000514.4(GDNF):c.*1612C>A rs200969412
NM_000514.4(GDNF):c.*1627C>T rs748498805
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.*1788G>A rs886060592
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.*2556T>A rs886060588
NM_000514.4(GDNF):c.*2651C>G rs369707461
NM_000514.4(GDNF):c.*2828T>A rs200003002
NM_000514.4(GDNF):c.*2829_*2830del rs141939066
NM_000514.4(GDNF):c.*346C>T rs753233921
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.*958A>C rs886060599

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