ClinVar Miner

List of variants reported as uncertain significance for Hirschsprung disease 3 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_000514.4(GDNF):c.*116G>T
NM_000514.4(GDNF):c.*1244A>G rs886060598
NM_000514.4(GDNF):c.*1246C>T
NM_000514.4(GDNF):c.*131G>A
NM_000514.4(GDNF):c.*1331G>C rs886060597
NM_000514.4(GDNF):c.*1360A>G
NM_000514.4(GDNF):c.*1433A>T
NM_000514.4(GDNF):c.*1534G>A rs886060596
NM_000514.4(GDNF):c.*1540A>G
NM_000514.4(GDNF):c.*1587G>T rs886060595
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.*1699G>C
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.*2059C>T rs886060590
NM_000514.4(GDNF):c.*2119C>G
NM_000514.4(GDNF):c.*2213G>A
NM_000514.4(GDNF):c.*2265T>C
NM_000514.4(GDNF):c.*2267G>A
NM_000514.4(GDNF):c.*2318G>A
NM_000514.4(GDNF):c.*235G>T
NM_000514.4(GDNF):c.*2446G>A
NM_000514.4(GDNF):c.*2556T>A rs886060588
NM_000514.4(GDNF):c.*2646C>G
NM_000514.4(GDNF):c.*2651C>G rs369707461
NM_000514.4(GDNF):c.*2828T>A rs200003002
NM_000514.4(GDNF):c.*346C>T rs753233921
NM_000514.4(GDNF):c.*532A>G rs886060602
NM_000514.4(GDNF):c.*617A>G
NM_000514.4(GDNF):c.*717T>G rs753516612
NM_000514.4(GDNF):c.*795C>T
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
NM_000514.4(GDNF):c.-132G>C
NM_000514.4(GDNF):c.-34G>T
NM_000514.4(GDNF):c.-42G>T
NM_000514.4(GDNF):c.151+9C>G
NM_000514.4(GDNF):c.272G>A (p.Arg91Gln)
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln)

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