ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Cardiac arrhythmia

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Gene type:
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Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr) rs184636161 0.00011
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met) rs1085307580 0.00007
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn) rs866169644 0.00006
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736 0.00006
NM_000218.3(KCNQ1):c.1128+4C>T rs201590918 0.00005
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000218.3(KCNQ1):c.1033-5C>G rs764094211 0.00004
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) rs372583676 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser) rs199472811 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000218.3(KCNQ1):c.658C>A (p.Gln220Lys) rs755789171 0.00004
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) rs1351149628 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783 0.00003
NM_000218.3(KCNQ1):c.1379G>A (p.Gly460Asp) rs770410327 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) rs199472692 0.00003
NM_000218.3(KCNQ1):c.719A>G (p.His240Arg) rs533669726 0.00003
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile) rs777347006 0.00002
NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg) rs1432436411 0.00002
NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys) rs762122463 0.00002
NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) rs794728577 0.00002
NM_000218.3(KCNQ1):c.553G>A (p.Val185Met) rs749351255 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000218.3(KCNQ1):c.*2G>T rs977184677 0.00001
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 0.00001
NM_000218.3(KCNQ1):c.1246G>A (p.Val416Met) rs777546418 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1794+6C>T rs1481251308 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.1919A>T (p.Gln640Leu) rs1246665674 0.00001
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe) rs1456989889 0.00001
NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser) rs867880610 0.00001
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) rs776119582 0.00001
NM_000218.3(KCNQ1):c.2007G>C (p.Arg669Ser) rs1224780355 0.00001
NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys) rs763389576 0.00001
NM_000218.3(KCNQ1):c.2011G>A (p.Gly671Ser) rs764563996 0.00001
NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu) rs199472684 0.00001
NM_000218.3(KCNQ1):c.445G>A (p.Ala149Thr) rs1362690035 0.00001
NM_000218.3(KCNQ1):c.478-7C>G rs372906106 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.757T>G (p.Ser253Ala) rs764781840 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.796C>A (p.Leu266Met) rs1263583359 0.00001
NM_000218.3(KCNQ1):c.802A>G (p.Ile268Val) rs757421492 0.00001
NM_000218.3(KCNQ1):c.880G>A (p.Val294Met) rs749073770 0.00001
NM_000218.3(KCNQ1):c.*4G>A rs1157661362
NM_000218.3(KCNQ1):c.*6G>A rs1349244002
NM_000218.3(KCNQ1):c.*7del rs756899141
NM_000218.3(KCNQ1):c.1032+5dup rs794728560
NM_000218.3(KCNQ1):c.1033-12A>C rs200423553
NM_000218.3(KCNQ1):c.1070A>G (p.Gln357Arg) rs199473405
NM_000218.3(KCNQ1):c.1079G>A (p.Arg360Lys) rs199473407
NM_000218.3(KCNQ1):c.1129-8G>T rs200612600
NM_000218.3(KCNQ1):c.1139G>A (p.Arg380Lys) rs1848609806
NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp) rs1848610060
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu) rs1848611273
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.3(KCNQ1):c.1181T>C (p.Ile394Thr) rs1437113154
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser) rs571899254
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1196C>T (p.Ala399Val) rs876657836
NM_000218.3(KCNQ1):c.1211C>G (p.Thr404Ser) rs1490239200
NM_000218.3(KCNQ1):c.1220C>T (p.Ser407Leu)
NM_000218.3(KCNQ1):c.1256A>G (p.Lys419Arg) rs757328965
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del) rs750178990
NM_000218.3(KCNQ1):c.1301G>C (p.Gly434Ala)
NM_000218.3(KCNQ1):c.1303G>A (p.Glu435Lys) rs1848630440
NM_000218.3(KCNQ1):c.1331C>A (p.Thr444Lys)
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu) rs199472780
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His) rs143149582
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1348G>C (p.Glu450Gln)
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly) rs1057518902
NM_000218.3(KCNQ1):c.1387A>G (p.Ser463Gly) rs1848632977
NM_000218.3(KCNQ1):c.1515-13C>G rs2133980915
NM_000218.3(KCNQ1):c.1523A>G (p.Glu508Gly)
NM_000218.3(KCNQ1):c.1531C>T (p.Arg511Trp) rs199472785
NM_000218.3(KCNQ1):c.1583A>G (p.Lys528Arg) rs1846543781
NM_000218.3(KCNQ1):c.1590G>A (p.Gln530=) rs1846543956
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) rs867549263
NM_000218.3(KCNQ1):c.1632G>C (p.Gln544His)
NM_000218.3(KCNQ1):c.1640A>G (p.Gln547Arg) rs199472798
NM_000218.3(KCNQ1):c.1654C>A (p.Leu552Ile) rs780896003
NM_000218.3(KCNQ1):c.1660G>T (p.Val554Leu) rs794728533
NM_000218.3(KCNQ1):c.1662G>A (p.Val554=) rs533146777
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) rs761947465
NM_000218.3(KCNQ1):c.1762A>G (p.Ile588Val) rs794728536
NM_000218.3(KCNQ1):c.1795G>T (p.Val599Leu) rs1848361040
NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) rs794728542
NM_000218.3(KCNQ1):c.1837C>T (p.Leu613Phe) rs767014889
NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp) rs2134096944
NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly) rs2134096959
NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) rs397508102
NM_000218.3(KCNQ1):c.1892C>A (p.Pro631His) rs1432436411
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) rs1464992494
NM_000218.3(KCNQ1):c.1916C>T (p.Thr639Ile)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.1926C>A (p.Cys642Ter) rs12720454
NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp) rs1848367520
NM_000218.3(KCNQ1):c.1951G>A (p.Glu651Lys) rs1848368295
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.387-4G>T
NM_000218.3(KCNQ1):c.410T>C (p.Leu137Pro)
NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys) rs199472688
NM_000218.3(KCNQ1):c.477+4C>G rs763599970
NM_000218.3(KCNQ1):c.478-8C>G rs150711844
NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala) rs1848316801
NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala) rs1848317004
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) rs749351255
NM_000218.3(KCNQ1):c.601A>G (p.Ile201Val)
NM_000218.3(KCNQ1):c.605-14C>T rs1284195790
NM_000218.3(KCNQ1):c.628A>G (p.Met210Val) rs1848330783
NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile) rs776811872
NM_000218.3(KCNQ1):c.653A>C (p.Lys218Thr) rs1848331549
NM_000218.3(KCNQ1):c.685G>A (p.Gly229Ser)
NM_000218.3(KCNQ1):c.754G>A (p.Gly252Ser)
NM_000218.3(KCNQ1):c.780+7_780+15del
NM_000218.3(KCNQ1):c.804C>A (p.Ile268=) rs373227792
NM_000218.3(KCNQ1):c.825C>G (p.Phe275Leu)
NM_000218.3(KCNQ1):c.844C>G (p.Leu282Val) rs979241598
NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr) rs765665086
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) rs765665086
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.862G>A (p.Val288Met) rs946704016
NM_000218.3(KCNQ1):c.898G>T (p.Ala300Ser) rs120074187
NM_000218.3(KCNQ1):c.919G>A (p.Val307Met) rs120074195
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)
NM_000218.3(KCNQ1):c.970G>A (p.Val324Ile) rs1848536066
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) rs1848536066
NM_000218.3(KCNQ1):c.986C>T (p.Ala329Val) rs200436951

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