ClinVar Miner

List of variants in gene KCNQ1, KCNQ1OT1 studied for Long QT syndrome

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.1393+22646C>G rs146407692 0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T rs72847701 0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T rs72850203 0.00923
NM_000218.3(KCNQ1):c.1514+4974G>A rs188083723 0.00530
NM_000218.3(KCNQ1):c.1514+18C>T rs12577654 0.00444
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) rs1205552952 0.00015
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000218.3(KCNQ1):c.1514+19G>A rs201932283 0.00006
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1514+13A>G rs532874422 0.00003
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000218.3(KCNQ1):c.1394-18C>G rs543054197 0.00001
NM_000218.3(KCNQ1):c.1415T>C (p.Leu472Pro) rs544402388 0.00001
NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=) rs562579708 0.00001
NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=) rs1060503982 0.00001
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) rs778041701 0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) rs189794855 0.00001
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala) rs749196110 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NC_000011.10:g.(?_2527918)_(2848935_?)del
NC_000011.9:g.(?_2466329)_(2869233_?)del
NC_000011.9:g.(?_2549148)_(2683321_?)dup
NC_000011.9:g.(?_2591848)_(2683321_?)del
NC_000011.9:g.(?_2629548)_(2721238_?)dup
NC_000011.9:g.(?_2683171)_(2683331_?)del
NM_000218.3(KCNQ1):c.1394-12C>T
NM_000218.3(KCNQ1):c.1394-13_1394-12del rs550005589
NM_000218.3(KCNQ1):c.1394-1G>C rs775537394
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1394-2A>G rs2133855926
NM_000218.3(KCNQ1):c.1394-3C>T rs2133855922
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1394-6C>T rs759714698
NM_000218.3(KCNQ1):c.1394-8C>A rs371488379
NM_000218.3(KCNQ1):c.1394-8C>G rs371488379
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1394-9T>C
NM_000218.3(KCNQ1):c.1405C>T (p.Pro469Ser)
NM_000218.3(KCNQ1):c.1406C>T (p.Pro469Leu)
NM_000218.3(KCNQ1):c.1408A>G (p.Thr470Ala) rs2133855949
NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser) rs1162587598
NM_000218.3(KCNQ1):c.1430C>T (p.Pro477Leu) rs199472784
NM_000218.3(KCNQ1):c.1431C>G (p.Pro477=)
NM_000218.3(KCNQ1):c.1432C>A (p.His478Asn)
NM_000218.3(KCNQ1):c.1436T>A (p.Phe479Tyr) rs1849965891
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu) rs1849965957
NM_000218.3(KCNQ1):c.1437C>G (p.Phe479Leu)
NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr)
NM_000218.3(KCNQ1):c.1446del (p.Asn483fs) rs794728558
NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser) rs866469017
NM_000218.3(KCNQ1):c.1449C>T (p.Asn483=) rs1849966701
NM_000218.3(KCNQ1):c.1456G>C (p.Ala486Pro) rs753256800
NM_000218.3(KCNQ1):c.1462G>A (p.Asp488Asn) rs2133856134
NM_000218.3(KCNQ1):c.1462G>C (p.Asp488His) rs2133856134
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu) rs1254052516
NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=) rs1849967508
NM_000218.3(KCNQ1):c.1476del (p.Glu494fs)
NM_000218.3(KCNQ1):c.1481A>G (p.Glu494Gly)
NM_000218.3(KCNQ1):c.1482G>T (p.Glu494Asp)
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln) rs1849967991
NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=) rs2133856204
NM_000218.3(KCNQ1):c.1499T>C (p.Ile500Thr)
NM_000218.3(KCNQ1):c.1505A>C (p.His502Pro)
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1514+10T>C rs2133856285
NM_000218.3(KCNQ1):c.1514+17G>T

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