List of variants in gene KCNQ1 reported as pathogenic by Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes

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.898G>A (p.Ala300Thr)	rs120074187	0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)	rs199472763	0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	rs1800171	0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	rs199472795	0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	rs199472800	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.477+5G>A	rs397508111	0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	rs199472696	0.00001
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)	rs199473399	0.00001
NM_000218.3(KCNQ1):c.683+5G>A	rs397508122	0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	rs199472730	0.00001
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)	rs12720459
NM_000218.3(KCNQ1):c.1032+5G>A	rs397508071
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	rs397508075
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)	rs1564825414
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)	rs199472771
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)	rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	rs397508087
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)	rs199472791
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	rs120074185
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	rs120074189
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	rs1435990592
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)	rs199472697
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	rs397508117
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)	rs199473457
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	rs199472712
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs)	rs1060500626
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	rs199472719
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	rs120074193
NM_000218.3(KCNQ1):c.921+1G>A	rs397508130
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)	rs120074184

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.