List of variants in gene KCNQ1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)	rs199472706	0.00011
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	rs120074190	0.00006
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	rs120074178	0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)	rs199472763	0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	rs397508097	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.477+1G>A	rs762814879	0.00001
NM_000218.3(KCNQ1):c.477+5G>A	rs397508111	0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	rs179489	0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	rs199473394	0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	rs120074196	0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	rs199472730	0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	rs120074186	0.00001
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	rs12720459
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs)	rs1848574802
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	rs397508072
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	rs397508075
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)	rs199472767
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)	rs397508082
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)	rs397508083
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs)	rs397508085
NM_000218.3(KCNQ1):c.1330del (p.Thr444fs)	rs1848631108
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs)	rs2133760795
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs)	rs1848632145
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	rs120074185
NM_000218.3(KCNQ1):c.1721del (p.Ile574fs)
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	rs878854347
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	rs139042529
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	rs397508120
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)	rs1554893091
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs)	rs1221462654
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)	rs397508129

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.