ClinVar Miner

List of variants reported as likely pathogenic for Hirschsprung disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) rs1419539530
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) rs765763704
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) rs200894751
NM_003924.3(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_006941.3(SOX10):c.832A>G (p.Ile278Val) rs760539449
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_138964.3(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.