ClinVar Miner

List of variants in gene KCNH1 studied for Temple-Baraitser syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.2136T>C (p.Asp712=) rs1135317 0.72879
NM_172362.3(KCNH1):c.2448G>A (p.Ala816=) rs112047226 0.00991
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro) rs140939826 0.00058
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) rs140043333 0.00008
NM_172362.3(KCNH1):c.2392G>A (p.Val798Ile) rs761754626 0.00006
NM_172362.3(KCNH1):c.2265G>C (p.Glu755Asp) rs776649794 0.00002
NM_172362.3(KCNH1):c.1022G>A (p.Arg341Lys) rs755319456 0.00001
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met) rs1349830428 0.00001
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg) rs752232888 0.00001
NM_172362.3(KCNH1):c.2930A>G (p.Gln977Arg) rs1334977288 0.00001
NM_172362.3(KCNH1):c.338T>C (p.Ile113Thr) rs2102473134 0.00001
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) rs1558526097
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp) rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr) rs2102561634
NM_172362.3(KCNH1):c.1201G>C (p.Gly401Arg) rs2527120499
NM_172362.3(KCNH1):c.1465C>T (p.Leu489Phe) rs1553345948
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_172362.3(KCNH1):c.1493T>C (p.Val498Ala) rs2102406845
NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg) rs727502821
NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe) rs727502820
NM_172362.3(KCNH1):c.2198C>T (p.Pro733Leu)
NM_172362.3(KCNH1):c.2206C>G (p.Pro736Ala) rs1681345673
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro) rs2149000714
NM_172362.3(KCNH1):c.2788A>G (p.Arg930Gly) rs2149000661
NM_172362.3(KCNH1):c.2829A>C (p.Lys943Asn) rs1681323784
NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn) rs727502822
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346

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.