ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 studied for Cardiac arrhythmia

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Total variants: 42
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HGVS dbSNP gnomAD frequency
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.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.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000218.3(KCNQ1):c.1402A>G (p.Ser468Gly) rs763931151 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.1449C>A (p.Asn483Lys) rs1849966701 0.00001
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) rs778041701 0.00001
NM_000218.3(KCNQ1):c.1497C>T (p.Pro499=) rs1309942328 0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) rs189794855 0.00001
NM_000218.3(KCNQ1):c.1394-13A>G rs747187696
NM_000218.3(KCNQ1):c.1394-13_1394-12del rs550005589
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1409C>T (p.Thr470Ile) rs1849964917
NM_000218.3(KCNQ1):c.1411C>A (p.Leu471Met) rs1849964971
NM_000218.3(KCNQ1):c.1427T>C (p.Met476Thr) rs767215260
NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser) rs1162587598
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu) rs1849965957
NM_000218.3(KCNQ1):c.1442G>A (p.Arg481Lys) rs1423068748
NM_000218.3(KCNQ1):c.1443A>G (p.Arg481=) rs1849966292
NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs) rs1849966157
NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser) rs866469017
NM_000218.3(KCNQ1):c.1454T>C (p.Phe485Ser) rs1335411338
NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=) rs1849967508
NM_000218.3(KCNQ1):c.1469A>G (p.Asp490Gly) rs1849967564
NM_000218.3(KCNQ1):c.1478G>A (p.Gly493Glu)
NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter)
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.1493C>T (p.Thr498Ile) rs1849968254
NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=) rs2133856204
NM_000218.3(KCNQ1):c.1498A>C (p.Ile500Leu) rs189794855
NM_000218.3(KCNQ1):c.1514+5G>A rs2133856267

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