ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance by GeneDx

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Total variants: 72
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1011C>G (p.Ile337Met) rs794728521
NM_000218.2(KCNQ1):c.1032+5dupG rs794728560
NM_000218.2(KCNQ1):c.1105C>G (p.Pro369Ala) rs794728525
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1128+5G>A rs76735093
NM_000218.2(KCNQ1):c.1170_1171insTCC (p.Ser390_Thr391insSer) rs1064793160
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.2(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232
NM_000218.2(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475
NM_000218.2(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782
NM_000218.2(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781
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.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930
NM_000218.2(KCNQ1):c.1553G>C (p.Arg518Pro) rs145974930
NM_000218.2(KCNQ1):c.1576A>G (p.Lys526Glu) rs199472792
NM_000218.2(KCNQ1):c.1589A>C (p.Gln530Pro) rs1057524487
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796
NM_000218.2(KCNQ1):c.1631A>T (p.Gln544Leu) rs794728574
NM_000218.2(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379
NM_000218.2(KCNQ1):c.1732G>A (p.Glu578Lys) rs1057517750
NM_000218.2(KCNQ1):c.1748G>A (p.Arg583His) rs199473482
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1811A>T (p.Gln604Leu) rs794728541
NM_000218.2(KCNQ1):c.1826_1828delTCA (p.Ile609del) rs1554932667
NM_000218.2(KCNQ1):c.1829C>A (p.Thr610Asn) rs794728542
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1855T>A (p.Leu619Met) rs199472819
NM_000218.2(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000218.2(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484
NM_000218.2(KCNQ1):c.192_221del30 (p.Ala65_Pro74del) rs781335353
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.1999G>A (p.Val667Met) rs776119582
NM_000218.2(KCNQ1):c.2017G>A (p.Asp673Asn) rs866169644
NM_000218.2(KCNQ1):c.208C>A (p.Pro70Thr) rs794728548
NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676
NM_000218.2(KCNQ1):c.230C>T (p.Ser77Phe) rs774349962
NM_000218.2(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468
NM_000218.2(KCNQ1):c.251C>G (p.Pro84Arg) rs794728551
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.392T>C (p.Leu131Pro) rs794728550
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.458C>T (p.Thr153Met) rs143709408
NM_000218.2(KCNQ1):c.484G>A (p.Val162Met) rs199472692
NM_000218.2(KCNQ1):c.493G>A (p.Val165Met) rs1085307580
NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) rs199472694
NM_000218.2(KCNQ1):c.587A>C (p.Lys196Thr) rs794728509
NM_000218.2(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320
NM_000218.2(KCNQ1):c.5C>T (p.Ala2Val) rs199473442
NM_000218.2(KCNQ1):c.643G>A (p.Val215Met) rs17215479
NM_000218.2(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545
NM_000218.2(KCNQ1):c.652A>G (p.Lys218Glu) rs36210419
NM_000218.2(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.2(KCNQ1):c.701A>C (p.Gln234Pro) rs794728570
NM_000218.2(KCNQ1):c.802A>G (p.Ile268Val) rs757421492
NM_000218.2(KCNQ1):c.803T>G (p.Ile268Ser) rs199472725
NM_000218.2(KCNQ1):c.81C>A (p.Ser27Arg) rs794728546
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.848C>G (p.Ala283Gly) rs199473463
NM_000218.2(KCNQ1):c.862G>A (p.Val288Met) rs946704016
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.8C>G (p.Ala3Gly) rs794728543
NM_000218.2(KCNQ1):c.922-3C>A rs794728515
NM_000218.2(KCNQ1):c.953A>C (p.Lys318Thr) rs794728516
NM_000218.2(KCNQ1):c.962A>C (p.Gln321Pro) rs794728518

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