List of variants in gene KCNQ1 reported as pathogenic by Ambry Genetics

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: 96

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	rs120074190	0.00006
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	rs151344631	0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	rs199472709	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.1032+1G>A	rs397508070	0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	rs1800171	0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	rs397508097	0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	rs199472795	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)	rs199472678	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.520C>T (p.Arg174Cys)	rs199472696	0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	rs199473394	0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	rs199472702	0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)	rs199472713	0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)	rs120074194	0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)	rs199472726	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.1014CTT[1] (p.Phe340del)	rs397508068
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)	rs199472759
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)	rs12720459
NM_000218.3(KCNQ1):c.1033-1_1117dup
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.107dup (p.Ser37fs)
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter)	rs794728571
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter)
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)	rs199472767
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)	rs397508077
NM_000218.3(KCNQ1):c.1128+2T>A	rs2133754863
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)	rs397508082
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs)	rs2133758591
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)	rs397508083
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	rs397508083
NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs)
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)	rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	rs397508087
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs)	rs1848632145
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)	rs794728527
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	rs397508096
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)	rs199473480
NM_000218.3(KCNQ1):c.1660del (p.Val554fs)	rs794728561
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	rs120074185
NM_000218.3(KCNQ1):c.1686del	rs794728562
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)	rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	rs199472807
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	rs120074189
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)	rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)	rs794728537
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)	rs2133992401
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	rs1435990592
NM_000218.3(KCNQ1):c.221dup (p.Val75fs)
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)	rs397508109
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs)	rs1554958132
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)	rs199472687
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	rs397508112
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	rs179489
NM_000218.3(KCNQ1):c.504del (p.Thr169fs)	rs397508114
NM_000218.3(KCNQ1):c.510del (p.Glu170fs)	rs1554892895
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	rs139042529
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs)	rs763462603
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)	rs530612385
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	rs397508117
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	rs397508120
NM_000218.3(KCNQ1):c.605-2A>G	rs2133728692
NM_000218.3(KCNQ1):c.713_719del (p.Met238fs)
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	rs199472712
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)	rs1554893091
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)	rs120074179
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	rs199472719
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)	rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	rs120074193
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)	rs120074180
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)	rs397508129
NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter)
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	rs120074186
NM_000218.3(KCNQ1):c.919del (p.Val307fs)	rs2133733071
NM_000218.3(KCNQ1):c.931del (p.Thr311fs)
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)	rs120074184
NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg)	rs120074184
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)	rs199472748
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)	rs74462309
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)	rs74462309
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)	rs199472755
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)	rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)	rs397508134

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