ClinVar Miner

List of variants in gene KCNQ1 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117 0.00062
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=) rs968695655 0.00042
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
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.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) rs12720454 0.00016
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=) rs752457145 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.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=) rs145452045 0.00008
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) rs373227792 0.00008
NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=) rs558452873 0.00006
NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=) rs184844767 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.351C>T (p.Pro117=) rs764872490 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000218.3(KCNQ1):c.1686-4C>T rs548313980 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000218.3(KCNQ1):c.1761G>A (p.Thr587=) rs148794853 0.00005
NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=) rs774046442 0.00005
NM_000218.3(KCNQ1):c.1107G>A (p.Pro369=) rs746037904 0.00004
NM_000218.3(KCNQ1):c.1533G>A (p.Arg511=) rs535306115 0.00004
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=) rs1003639764 0.00004
NM_000218.3(KCNQ1):c.603C>T (p.Ile201=) rs146190510 0.00004
NM_000218.3(KCNQ1):c.1197C>A (p.Ala399=) rs756413033 0.00003
NM_000218.3(KCNQ1):c.1548C>T (p.Val516=) rs748073960 0.00003
NM_000218.3(KCNQ1):c.1656C>T (p.Leu552=) rs745675388 0.00003
NM_000218.3(KCNQ1):c.1767C>T (p.Gly589=) rs368364062 0.00003
NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=) rs781272088 0.00003
NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=) rs751946698 0.00003
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=) rs774085613 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=) rs760047145 0.00003
NM_000218.3(KCNQ1):c.930C>A (p.Val310=) rs766494998 0.00003
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=) rs749631604 0.00002
NM_000218.3(KCNQ1):c.1591-4G>A rs555518358 0.00002
NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=) rs377553748 0.00002
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=) rs758960211 0.00002
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) rs775479779 0.00002
NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=) rs794728521 0.00001
NM_000218.3(KCNQ1):c.1023G>A (p.Ala341=) rs772363276 0.00001
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=) rs199630316 0.00001
NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=) rs763723387 0.00001
NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=) rs772078282 0.00001
NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=) rs764870839 0.00001
NM_000218.3(KCNQ1):c.1209C>T (p.His403=) rs779294146 0.00001
NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=) rs763197403 0.00001
NM_000218.3(KCNQ1):c.1335C>T (p.Cys445=) rs890238618 0.00001
NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=) rs753619991 0.00001
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=) rs200418488 0.00001
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=) rs138551008 0.00001
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=) rs886039093 0.00001
NM_000218.3(KCNQ1):c.1728C>T (p.Val576=) rs144363041 0.00001
NM_000218.3(KCNQ1):c.177A>G (p.Pro59=) rs1403467559 0.00001
NM_000218.3(KCNQ1):c.1785A>G (p.Val595=) rs1027750390 0.00001
NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=) rs991680454 0.00001
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=) rs962199389 0.00001
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=) rs769848998 0.00001
NM_000218.3(KCNQ1):c.189C>G (p.Pro63=) rs1398693672 0.00001
NM_000218.3(KCNQ1):c.1941C>T (p.Ser647=) rs1386852977 0.00001
NM_000218.3(KCNQ1):c.222A>G (p.Pro74=) rs1380003005 0.00001
NM_000218.3(KCNQ1):c.267G>A (p.Pro89=) rs907132030 0.00001
NM_000218.3(KCNQ1):c.297G>C (p.Pro99=) rs778702162 0.00001
NM_000218.3(KCNQ1):c.301T>C (p.Leu101=) rs1186850886 0.00001
NM_000218.3(KCNQ1):c.411C>T (p.Leu137=) rs1035435122 0.00001
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) rs377520734 0.00001
NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=) rs780231722 0.00001
NM_000218.3(KCNQ1):c.612C>T (p.Ile204=) rs199473455 0.00001
NM_000218.3(KCNQ1):c.867C>T (p.Asn289=) rs1262523905 0.00001
NM_000218.3(KCNQ1):c.870G>A (p.Glu290=) rs1438599984 0.00001
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=) rs373183513 0.00001
NM_000218.3(KCNQ1):c.939C>T (p.Ile313=) rs199472747 0.00001
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=) rs769230282 0.00001
NM_000218.3(KCNQ1):c.1035G>T (p.Gly345=)
NM_000218.3(KCNQ1):c.1089C>T (p.His363=) rs1589967006
NM_000218.3(KCNQ1):c.1095C>T (p.Asn365=) rs1589967022
NM_000218.3(KCNQ1):c.1197C>T (p.Ala399=)
NM_000218.3(KCNQ1):c.1248G>A (p.Val416=) rs1848613980
NM_000218.3(KCNQ1):c.1252-3dup rs12720450
NM_000218.3(KCNQ1):c.1290G>A (p.Gly430=) rs1848629909
NM_000218.3(KCNQ1):c.1320C>A (p.Val440=) rs781151116
NM_000218.3(KCNQ1):c.1515G>A (p.Gln505=)
NM_000218.3(KCNQ1):c.159C>T (p.Pro53=) rs1057520456
NM_000218.3(KCNQ1):c.168C>G (p.Pro56=) rs2133559703
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.174C>T (p.Ala58=)
NM_000218.3(KCNQ1):c.183C>T (p.Pro61=)
NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=)
NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=)
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=) rs749068909
NM_000218.3(KCNQ1):c.1908C>G (p.Ala636=)
NM_000218.3(KCNQ1):c.1923C>T (p.Pro641=)
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=) rs184844767
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
NM_000218.3(KCNQ1):c.195G>T (p.Ala65=)
NM_000218.3(KCNQ1):c.1962G>A (p.Leu654=)
NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=)
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser) rs552087428
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.2022G>A (p.Glu674=)
NM_000218.3(KCNQ1):c.2030G>A (p.Ter677=)
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.222A>C (p.Pro74=)
NM_000218.3(KCNQ1):c.228C>T (p.Ala76=)
NM_000218.3(KCNQ1):c.231C>T (p.Ser77=)
NM_000218.3(KCNQ1):c.249G>T (p.Pro83=) rs760371519
NM_000218.3(KCNQ1):c.306G>A (p.Ala102=) rs761591068
NM_000218.3(KCNQ1):c.30C>G (p.Ala10=)
NM_000218.3(KCNQ1):c.315C>T (p.His105=)
NM_000218.3(KCNQ1):c.354C>T (p.Thr118=)
NM_000218.3(KCNQ1):c.396C>T (p.Ile132=) rs1400426641
NM_000218.3(KCNQ1):c.465T>G (p.Thr155=)
NM_000218.3(KCNQ1):c.504G>A (p.Gly168=)
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) rs757713526
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) rs1848319199
NM_000218.3(KCNQ1):c.567G>C (p.Gly189=)
NM_000218.3(KCNQ1):c.597C>G (p.Ser199=)
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.675G>C (p.Ser225=) rs148566141
NM_000218.3(KCNQ1):c.702G>A (p.Gln234=)
NM_000218.3(KCNQ1):c.774C>T (p.His258=) rs1848345991
NM_000218.3(KCNQ1):c.828C>T (p.Ser276=)
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=) rs761225039
NM_000218.3(KCNQ1):c.840G>T (p.Val280=) rs1554893236
NM_000218.3(KCNQ1):c.843C>T (p.Tyr281=)
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000218.3(KCNQ1):c.879C>T (p.Arg293=) rs181106858
NM_000218.3(KCNQ1):c.909G>A (p.Leu303=)
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)

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