ClinVar Miner

List of variants studied for Hirschsprung disease by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000115.5(EDNRB):c.-51-949A>T rs267606780
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_000514.4(GDNF):c.460A>T (p.Thr154Ser) rs104893891
NM_000514.4(GDNF):c.633C>G (p.Ile211Met) rs121918536
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter) rs104894389
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387
NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs) rs769735757
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_020975.6(RET):c.1179C>A (p.Phe393Leu) rs78098482
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858
NM_020975.6(RET):c.191C>T (p.Pro64Leu) rs77596424
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.6(RET):c.2293T>C (p.Ser765Pro) rs75075748
NM_020975.6(RET):c.2690G>A (p.Arg897Gln) rs76087194
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) rs76534745
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.406G>T (p.Glu136Ter) rs79014735
NM_020975.6(RET):c.538C>T (p.Arg180Ter) rs76449634
NM_020975.6(RET):c.692G>A (p.Arg231His) rs79661516
NM_020975.6(RET):c.73+9277T>C rs2435357
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
NM_207034.3(EDN3):c.262dup (p.Ala88fs) rs1568823467
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351
RET, 1-BP DEL, G1120

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