ClinVar Miner

List of variants in gene SLC9A6 reported as pathogenic for Christianson syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp) rs782108464
NM_001042537.1(SLC9A6):c.1463-1G>A rs1603215383
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) rs122461162
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.1665_1669del (p.Arg556fs) rs1603219805
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) rs587784398
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) rs587784399
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042537.1(SLC9A6):c.603+3_603+4delinsCC rs730882187
NM_001042537.1(SLC9A6):c.608_609del (p.His203fs) rs730882188
NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del) rs886037619
NM_001042537.1(SLC9A6):c.882del (p.Ala295fs) rs1057519394
NM_006359.3(SLC9A6):c.478_479AT[1] (p.Phe161fs) rs1603198063

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.