ClinVar Miner

List of variants reported as benign for craniosynostosis 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002449.5(MSX2):c.*1176G>C rs2890849 0.79238
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_002449.5(MSX2):c.*1125A>G rs14459 0.76842
NM_002449.5(MSX2):c.*510A>G rs2381939 0.76399
NM_002449.5(MSX2):c.*1146T>C rs2890848 0.75720
NM_002449.5(MSX2):c.*658C>T rs10044147 0.03436
NM_002449.5(MSX2):c.-17C>G rs4647952 0.03140
NM_002449.5(MSX2):c.*416A>C rs10038500 0.02725
NM_002449.5(MSX2):c.*349T>C rs114567531 0.02667
NM_002449.5(MSX2):c.*466G>A rs148083483 0.00560
NM_002449.5(MSX2):c.*1007T>A rs74292295 0.00387
NM_002449.5(MSX2):c.*257T>C rs187794452 0.00385
NM_002449.5(MSX2):c.*723A>C rs115604243 0.00315
NM_002449.5(MSX2):c.*1249T>C rs139249455 0.00219
NM_002449.5(MSX2):c.*1050T>C rs184931219 0.00133
NM_002449.5(MSX2):c.*635G>A rs192627117 0.00101
NM_002449.5(MSX2):c.*1178C>T rs182072112 0.00021
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_002449.5(MSX2):c.*1206T>C rs77229212 0.00006
NM_002449.5(MSX2):c.-42C>T rs758437365 0.00003
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_002449.5(MSX2):c.*157A>T rs17063878
NM_002449.5(MSX2):c.*172G>A rs577291689
NM_002449.5(MSX2):c.*878C>T rs554272174
NM_002449.5(MSX2):c.-56C>A rs113874536

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.