ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000218.3(KCNQ1):c.1514+19G>A rs201932283 0.00006
NM_000218.3(KCNQ1):c.1514+13A>G rs532874422 0.00003
NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=) rs562579708 0.00001
NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=) rs1060503982 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1394-12C>T
NM_000218.3(KCNQ1):c.1394-13_1394-12del rs550005589
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1394-6C>T rs759714698
NM_000218.3(KCNQ1):c.1394-8C>A rs371488379
NM_000218.3(KCNQ1):c.1394-8C>G rs371488379
NM_000218.3(KCNQ1):c.1394-9T>C
NM_000218.3(KCNQ1):c.1431C>G (p.Pro477=)
NM_000218.3(KCNQ1):c.1449C>T (p.Asn483=) rs1849966701
NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=) rs1849967508
NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=) rs2133856204
NM_000218.3(KCNQ1):c.1512A>C (p.Ser504=) rs1590015120
NM_000218.3(KCNQ1):c.1514+10T>C rs2133856285
NM_000218.3(KCNQ1):c.1514+17G>T

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.