ClinVar Miner

List of variants studied for Chudley-McCullough syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
GPSM2, 1-BP DEL, 1473G
NM_013296.5(GPSM2):c.-248-1G>A rs1051372133
NM_013296.5(GPSM2):c.1062+1G>T rs777695770
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr)
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476
NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) rs387907010
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) rs189033496
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912

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.