ClinVar Miner

List of variants in gene KCNQ1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1017_1019delCTT (p.Phe340del) rs397508068
NM_000218.2(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.2(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1032G>A (p.Ala344=) rs1800171
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1081C>T (p.Gln361Ter) rs794728571
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1198C>G (p.Pro400Ala) rs1489132337
NM_000218.2(KCNQ1):c.1201dupC (p.Arg401Profs) rs397508082
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1332G>A (p.Thr444=) rs144985256
NM_000218.2(KCNQ1):c.1340C>A (p.Pro447His) rs143149582
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.1356G>T (p.Arg452=) rs753619991
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.1578G>T (p.Lys526Asn) rs1554919483
NM_000218.2(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1638G>A (p.Ser546=) rs1057128
NM_000218.2(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1716G>A (p.Leu572=) rs886039093
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.175C>G (p.Pro59Ala) rs1554958059
NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190
NM_000218.2(KCNQ1):c.1768G>C (p.Ala590Pro) rs199472813
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.2(KCNQ1):c.1822C>G (p.Leu608Val) rs1554932663
NM_000218.2(KCNQ1):c.1827C>T (p.Ile609=) rs377553748
NM_000218.2(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) rs397508104
NM_000218.2(KCNQ1):c.1902C>T (p.Gly634=) rs774046442
NM_000218.2(KCNQ1):c.1926C>T (p.Cys642=) rs12720454
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.2(KCNQ1):c.200_210delCGGCCGCGCCC (p.Pro67Argfs) rs1435990592
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676
NM_000218.2(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.345G>A (p.Glu115=) rs758960211
NM_000218.2(KCNQ1):c.351C>T (p.Pro117=) rs764872490
NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.2(KCNQ1):c.458C>T (p.Thr153Met) rs143709408
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs) rs397508112
NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.2(KCNQ1):c.510delG (p.Glu170Aspfs) rs1554892895
NM_000218.2(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) rs199472694
NM_000218.2(KCNQ1):c.524_534del11 (p.Leu175Argfs) rs763462603
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.2(KCNQ1):c.567dupG (p.Arg190Alafs) rs397508117
NM_000218.2(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178
NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) rs397508118
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702
NM_000218.2(KCNQ1):c.613G>A (p.Val205Met) rs151344631
NM_000218.2(KCNQ1):c.629T>C (p.Met210Thr) rs886038994
NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) rs775479779
NM_000218.2(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.800A>T (p.Tyr267Phe) rs886039033
NM_000218.2(KCNQ1):c.804C>T (p.Ile268=) rs373227792
NM_000218.2(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.2(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735
NM_000218.2(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.2(KCNQ1):c.922-3C>A rs794728515
NM_000218.2(KCNQ1):c.940G>C (p.Gly314Arg) rs120074184
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.2(KCNQ1):c.984C>T (p.Ile328=) rs140019543
NM_000218.2(KCNQ1):c.985G>A (p.Ala329Thr) rs543428644

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