ClinVar Miner

List of variants studied for Hirschsprung disease 3 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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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.*116G>T
NM_000514.4(GDNF):c.*1199A>T
NM_000514.4(GDNF):c.*1244A>G rs886060598
NM_000514.4(GDNF):c.*1246C>T
NM_000514.4(GDNF):c.*1264C>T rs62360370
NM_000514.4(GDNF):c.*1276A>G rs142426358
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.*1375T>C
NM_000514.4(GDNF):c.*1389A>G rs78613670
NM_000514.4(GDNF):c.*1406G>A rs528922361
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.*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.*1699G>C
NM_000514.4(GDNF):c.*1713C>T rs886060593
NM_000514.4(GDNF):c.*1782G>A
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.*2119C>G
NM_000514.4(GDNF):c.*2150T>G
NM_000514.4(GDNF):c.*2162G>T rs17379771
NM_000514.4(GDNF):c.*2204G>T rs72745194
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.*2440G>A rs78865769
NM_000514.4(GDNF):c.*2446G>A
NM_000514.4(GDNF):c.*2556T>A rs886060588
NM_000514.4(GDNF):c.*2643C>T rs146664109
NM_000514.4(GDNF):c.*2646C>G
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.*2883G>A rs77776214
NM_000514.4(GDNF):c.*346C>T rs753233921
NM_000514.4(GDNF):c.*363A>T rs45611434
NM_000514.4(GDNF):c.*450C>T
NM_000514.4(GDNF):c.*529G>A rs58787312
NM_000514.4(GDNF):c.*532A>G rs886060602
NM_000514.4(GDNF):c.*5G>A rs145996577
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.*93A>T rs45535335
NM_000514.4(GDNF):c.*958A>C rs886060599
NM_000514.4(GDNF):c.*988A>G rs79669773
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.-51A>G rs2973033
NM_000514.4(GDNF):c.151+9C>G
NM_000514.4(GDNF):c.272G>A (p.Arg91Gln)
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln)
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561

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