ClinVar Miner

List of variants studied for Hirschsprung disease by Clinical Genetics, Erasmus University Medical Center

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079
NM_001111018.1(NAV2):c.2308C>T (p.Arg770Trp) rs144875196
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_002181.4(IHH):c.151C>A (p.Gln51Lys) rs1553540620
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) rs41298555
NM_012360.2(OR1F1):c.47G>A (p.Gly16Glu) rs142486394
NM_015229.4(CLUH):c.3661G>C (p.Asp1221His) rs201361018
NM_018899.6(PCDHAC2):c.2591G>A (p.Arg864His) rs150254638
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704
NM_031200.3(CCR9):c.3G>T (p.Met1Ile) rs1553617019
NM_201266.2(NRP2):c.1000C>T (p.Arg334Cys) rs114144673

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.