ClinVar Miner

List of variants in gene SLC9A6 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met) rs1556618832
NM_001042537.1(SLC9A6):c.1116C>G (p.Thr372=) rs1060504686
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1237-8C>T rs1060504684
NM_001042537.1(SLC9A6):c.1239G>A (p.Leu413=) rs151178361
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) rs1556619315
NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp) rs1569525357
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) rs122461162
NM_001042537.1(SLC9A6):c.153A>G (p.Arg51=) rs782090744
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=) rs782370742
NM_001042537.1(SLC9A6):c.1616+10A>G rs185533973
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.1764G>A (p.Pro588=) rs1060504687
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) rs587784398
NM_001042537.1(SLC9A6):c.1939A>G (p.Ser647Gly) rs558960349
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) rs587784399
NM_001042537.1(SLC9A6):c.227_244del (p.Ile76_Leu81del)
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.269T>C (p.Leu90Pro) rs1556614843
NM_001042537.1(SLC9A6):c.362A>G (p.His121Arg) rs1060502675
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.384T>C (p.Asn128=) rs782529317
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu)
NM_001042537.1(SLC9A6):c.574_575AT[1] (p.Phe193fs)
NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys) rs1556616834
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.630T>C (p.Ser210=) rs144316388
NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=)
NM_001042537.1(SLC9A6):c.672C>T (p.Phe224=) rs1423014570
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile) rs1556616995
NM_001042537.1(SLC9A6):c.759A>G (p.Leu253=) rs1060504685
NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp)
NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val)
NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del) rs886037619
NM_001042537.1(SLC9A6):c.882del (p.Ala295fs) rs1057519394
NM_001042537.1(SLC9A6):c.899+1G>A rs1556617455
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu)
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258
NM_001042537:c.916delC

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.