ClinVar Miner

List of variants in gene KCNQ1 reported as uncertain significance for Jervell and Lange-Nielsen syndrome 1

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Total variants: 57
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HGVS dbSNP
NM_000218.2(KCNQ1):c.-38C>T rs886048160
NM_000218.2(KCNQ1):c.-69G>A rs886048159
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.3(KCNQ1):c.*125C>T
NM_000218.3(KCNQ1):c.*240C>T
NM_000218.3(KCNQ1):c.*290A>G
NM_000218.3(KCNQ1):c.*295G>A
NM_000218.3(KCNQ1):c.*66C>T
NM_000218.3(KCNQ1):c.*730C>T
NM_000218.3(KCNQ1):c.*81C>T
NM_000218.3(KCNQ1):c.-55G>C
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000218.3(KCNQ1):c.1590+13C>A
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297
NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr)
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys)
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484
NM_000218.3(KCNQ1):c.387-12C>T
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)
NM_000218.3(KCNQ1):c.684-15C>G
NM_000218.3(KCNQ1):c.780+12G>A
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769
NM_000218.3(KCNQ1):c.921+12A>G
NM_181798.1(KCNQ1):c.*1025G>C rs181226788
NM_181798.1(KCNQ1):c.*1055C>T rs375155898
NM_181798.1(KCNQ1):c.*1088G>C rs886048177
NM_181798.1(KCNQ1):c.*171G>A rs886048168
NM_181798.1(KCNQ1):c.*266G>A rs113029000
NM_181798.1(KCNQ1):c.*391G>A rs774059974
NM_181798.1(KCNQ1):c.*392A>C rs868129989
NM_181798.1(KCNQ1):c.*47A>C rs754931159
NM_181798.1(KCNQ1):c.*539G>C rs886048171
NM_181798.1(KCNQ1):c.*581T>C rs765566577
NM_181798.1(KCNQ1):c.*633G>A rs886048173
NM_181798.1(KCNQ1):c.*652G>A rs886048174
NM_181798.1(KCNQ1):c.*712G>A rs745447199
NM_181798.1(KCNQ1):c.*717T>G rs189162344
NM_181798.1(KCNQ1):c.*837G>A rs139633955
NM_181798.1(KCNQ1):c.*877C>G rs763163556
NM_181798.1(KCNQ1):c.*904T>C rs186055804
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) rs199472694
NM_181798.1(KCNQ1):c.1413+12C>T rs727505084
NM_181798.1(KCNQ1):c.1474T>A (p.Leu492Met) rs199472819
NM_181798.1(KCNQ1):c.267C>A (p.Gly89=) rs146350010
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.6-7C>T rs201682200
NM_181798.1(KCNQ1):c.771C>T (p.Ala257=) rs144615901
NM_181798.1(KCNQ1):c.962C>T (p.Pro321Leu) rs12720449
NM_181798.1(KCNQ1):c.971G>A (p.Arg324Gln) rs199472781
NM_181798.1(KCNQ1):c.994G>A (p.Asp332Asn) rs747704276

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