ClinVar Miner

List of variants in gene CASK reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly) rs759161435 0.00005
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) rs138646715 0.00003
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.2375C>T (p.Ser792Phe) rs2064797874 0.00001
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser) rs1021774904
NM_001367721.1(CASK):c.1504-5A>G
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr) rs1064797367
NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly) rs2147145150
NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)
NM_001367721.1(CASK):c.430-4T>C
NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile) rs1569379996
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr) rs771426240

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.