ClinVar Miner

List of variants in gene KCNQ1 reported by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000218.2(KCNQ1):c.1032G>A (p.Ala344=) rs1800171
NM_000218.2(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.2(KCNQ1):c.1733-1G>C rs878854348
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178
NM_000218.2(KCNQ1):c.758C>G (p.Ser253Cys) rs794728513
NM_000218.2(KCNQ1):c.821_823TCT[1] (p.Phe275del) rs397508126
NM_000218.2(KCNQ1):c.825_827CTC[1] (p.Ser277del) rs397508127

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.