ClinVar Miner

List of variants in gene KCNQ1 studied for short QT syndrome

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Total variants: 77
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HGVS dbSNP
NM_000218.2(KCNQ1):c.*1025G>C rs181226788
NM_000218.2(KCNQ1):c.*1055C>T rs375155898
NM_000218.2(KCNQ1):c.*1088G>C rs886048177
NM_000218.2(KCNQ1):c.*160C>A rs886048167
NM_000218.2(KCNQ1):c.*171G>A rs886048168
NM_000218.2(KCNQ1):c.*219G>A rs45477500
NM_000218.2(KCNQ1):c.*241G>A rs142023323
NM_000218.2(KCNQ1):c.*264T>C rs45579540
NM_000218.2(KCNQ1):c.*266G>A rs113029000
NM_000218.2(KCNQ1):c.*26C>A rs886048166
NM_000218.2(KCNQ1):c.*292C>A rs886048169
NM_000218.2(KCNQ1):c.*305A>C rs45570140
NM_000218.2(KCNQ1):c.*350G>A rs114877430
NM_000218.2(KCNQ1):c.*377delG rs762386874
NM_000218.2(KCNQ1):c.*391G>A rs774059974
NM_000218.2(KCNQ1):c.*392A>C rs868129989
NM_000218.2(KCNQ1):c.*398C>T rs886048170
NM_000218.2(KCNQ1):c.*411C>T rs45460605
NM_000218.2(KCNQ1):c.*464G>A rs141960532
NM_000218.2(KCNQ1):c.*479G>A rs2519184
NM_000218.2(KCNQ1):c.*47A>C rs754931159
NM_000218.2(KCNQ1):c.*482G>A rs45510192
NM_000218.2(KCNQ1):c.*539G>C rs886048171
NM_000218.2(KCNQ1):c.*554T>G rs886048172
NM_000218.2(KCNQ1):c.*581T>C rs765566577
NM_000218.2(KCNQ1):c.*633G>A rs886048173
NM_000218.2(KCNQ1):c.*652G>A rs886048174
NM_000218.2(KCNQ1):c.*712G>A rs745447199
NM_000218.2(KCNQ1):c.*717T>G rs189162344
NM_000218.2(KCNQ1):c.*731G>A rs146324627
NM_000218.2(KCNQ1):c.*742G>A rs114844136
NM_000218.2(KCNQ1):c.*806C>T rs539398869
NM_000218.2(KCNQ1):c.*837G>A rs139633955
NM_000218.2(KCNQ1):c.*875A>G rs8234
NM_000218.2(KCNQ1):c.*877C>G rs763163556
NM_000218.2(KCNQ1):c.*887_*889delTCA rs886048175
NM_000218.2(KCNQ1):c.*892_*894delAAT rs546360517
NM_000218.2(KCNQ1):c.*897G>T rs561861522
NM_000218.2(KCNQ1):c.*904T>C rs186055804
NM_000218.2(KCNQ1):c.*932A>G rs10798
NM_000218.2(KCNQ1):c.*975C>T rs74048340
NM_000218.2(KCNQ1):c.-38C>T rs886048160
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.-69G>A rs886048159
NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.1638G>A (p.Ser546=) rs1057128
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1794+12C>T rs727505084
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455
NM_000218.2(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-10G>A rs28730752
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.781-6G>T rs886048164
NM_000218.2(KCNQ1):c.919G>C (p.Val307Leu) rs120074195
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844

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