ClinVar Miner

List of variants studied for Jervell-Lange Nielsen syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
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HGVS dbSNP
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.-38C>T rs886048160
NM_000218.2(KCNQ1):c.-69G>A rs886048159
NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.5(KCNE1):c.-561C>T rs886057028
NM_000219.5(KCNE1):c.-577C>T rs11702354
NM_000219.5(KCNE1):c.-605G>A rs780282543
NM_000219.5(KCNE1):c.-628A>G rs76210431
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1068A>C rs41314803
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1219A>G rs11909074
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090
NM_000219.6(KCNE1):c.*124A>G rs2070357
NM_000219.6(KCNE1):c.*1322A>G rs11700621
NM_000219.6(KCNE1):c.*132A>G rs41314071
NM_000219.6(KCNE1):c.*1338C>T rs74508995
NM_000219.6(KCNE1):c.*1447C>G rs886057020
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1556G>A rs886057019
NM_000219.6(KCNE1):c.*1574C>T rs561997378
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1666G>A rs181999033
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*1831C>T rs41314065
NM_000219.6(KCNE1):c.*1832C>T rs886057016
NM_000219.6(KCNE1):c.*1838T>A rs41312369
NM_000219.6(KCNE1):c.*1859G>A rs754021039
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*196C>G rs76568182
NM_000219.6(KCNE1):c.*2000C>T rs544071641
NM_000219.6(KCNE1):c.*2001G>A rs41314799
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2098T>C rs41312993
NM_000219.6(KCNE1):c.*2103C>T rs41312367
NM_000219.6(KCNE1):c.*2150G>A rs530554373
NM_000219.6(KCNE1):c.*2194T>C rs529806670
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*2461A>G rs13050198
NM_000219.6(KCNE1):c.*2480A>G rs3453
NM_000219.6(KCNE1):c.*2529C>T rs2834485
NM_000219.6(KCNE1):c.*268C>T rs41314807
NM_000219.6(KCNE1):c.*30C>G rs150963475
NM_000219.6(KCNE1):c.*373A>G rs41314805
NM_000219.6(KCNE1):c.*456C>T rs2070356
NM_000219.6(KCNE1):c.*457G>A rs886057024
NM_000219.6(KCNE1):c.*490G>C rs41314067
NM_000219.6(KCNE1):c.*493C>T rs77190660
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*578T>C rs16991703
NM_000219.6(KCNE1):c.*817A>G rs75375964
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*923G>A rs182050647
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-100T>C rs41314819
NM_000219.6(KCNE1):c.-101A>T rs74706643
NM_000219.6(KCNE1):c.-13C>T rs745925445
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-252G>A rs2834502
NM_000219.6(KCNE1):c.-253A>G rs41315471
NM_000219.6(KCNE1):c.-298C>T rs78250687
NM_000219.6(KCNE1):c.-375A>G rs41315349
NM_000219.6(KCNE1):c.-377+13G>A rs41315351
NM_000219.6(KCNE1):c.-432G>A rs539503433
NM_000219.6(KCNE1):c.-464G>A rs4817670
NM_000219.6(KCNE1):c.-467A>T rs558817846
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-530G>A rs886057027
NM_000219.6(KCNE1):c.-57T>C rs886057025
NM_000219.6(KCNE1):c.-82T>G rs145416040
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) rs758346045
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510
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.*160C>A rs886048167
NM_181798.1(KCNQ1):c.*171G>A rs886048168
NM_181798.1(KCNQ1):c.*219G>A rs45477500
NM_181798.1(KCNQ1):c.*241G>A rs142023323
NM_181798.1(KCNQ1):c.*264T>C rs45579540
NM_181798.1(KCNQ1):c.*266G>A rs113029000
NM_181798.1(KCNQ1):c.*26C>A rs886048166
NM_181798.1(KCNQ1):c.*292C>A rs886048169
NM_181798.1(KCNQ1):c.*305A>C rs45570140
NM_181798.1(KCNQ1):c.*350G>A rs114877430
NM_181798.1(KCNQ1):c.*377del rs762386874
NM_181798.1(KCNQ1):c.*391G>A rs774059974
NM_181798.1(KCNQ1):c.*392A>C rs868129989
NM_181798.1(KCNQ1):c.*398C>T rs886048170
NM_181798.1(KCNQ1):c.*411C>T rs45460605
NM_181798.1(KCNQ1):c.*464G>A rs141960532
NM_181798.1(KCNQ1):c.*479G>A rs2519184
NM_181798.1(KCNQ1):c.*47A>C rs754931159
NM_181798.1(KCNQ1):c.*482G>A rs45510192
NM_181798.1(KCNQ1):c.*539G>C rs886048171
NM_181798.1(KCNQ1):c.*554T>G rs886048172
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.*731G>A rs146324627
NM_181798.1(KCNQ1):c.*742G>A rs114844136
NM_181798.1(KCNQ1):c.*806C>T rs539398869
NM_181798.1(KCNQ1):c.*837G>A rs139633955
NM_181798.1(KCNQ1):c.*875A>G rs8234
NM_181798.1(KCNQ1):c.*877C>G rs763163556
NM_181798.1(KCNQ1):c.*887_*889del rs886048175
NM_181798.1(KCNQ1):c.*889_*891AAT[1] rs546360517
NM_181798.1(KCNQ1):c.*897G>T rs561861522
NM_181798.1(KCNQ1):c.*904T>C rs186055804
NM_181798.1(KCNQ1):c.*932A>G rs10798
NM_181798.1(KCNQ1):c.*975C>T rs74048340
NM_181798.1(KCNQ1):c.-16616T>C rs532941548
NM_181798.1(KCNQ1):c.1012+21526C>T rs72847701
NM_181798.1(KCNQ1):c.1012+21538C>T rs72850203
NM_181798.1(KCNQ1):c.1012+22646C>G rs146407692
NM_181798.1(KCNQ1):c.1012+28111T>G rs114030398
NM_181798.1(KCNQ1):c.1012+31361T>A rs200391321
NM_181798.1(KCNQ1):c.1013-14C>T rs28730758
NM_181798.1(KCNQ1):c.1013-8C>T rs371488379
NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) rs1554903804
NM_181798.1(KCNQ1):c.1074C>T (p.Phe358=) rs17215465
NM_181798.1(KCNQ1):c.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1133+3G>A rs374767819
NM_181798.1(KCNQ1):c.1133+4974G>A rs188083723
NM_181798.1(KCNQ1):c.1133+9C>T rs770840921
NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) rs1554919471
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1174C>T (p.Arg392Cys) rs199472787
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.1209+14T>C rs11024034
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) rs199472795
NM_181798.1(KCNQ1):c.1257G>A (p.Ser419=) rs1057128
NM_181798.1(KCNQ1):c.1305-1G>A rs397508098
NM_181798.1(KCNQ1):c.132C>T (p.Tyr44=) rs139042529
NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) rs199472694
NM_181798.1(KCNQ1):c.1351+5del rs1554920833
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854
NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) rs200670744
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) rs120074189
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) rs120074190
NM_181798.1(KCNQ1):c.1413+11G>A rs186188610
NM_181798.1(KCNQ1):c.1413+12C>T rs727505084
NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) rs199472820
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser) rs775608046
NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) rs397508103
NM_181798.1(KCNQ1):c.1546G>A (p.Gly516Ser) rs1800172
NM_181798.1(KCNQ1):c.1561G>A (p.Val521Ile) rs34150427
NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn) rs377661455
NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His) rs886048165
NM_181798.1(KCNQ1):c.1605C>G (p.Tyr535Ter) rs11601907
NM_181798.1(KCNQ1):c.1605C>T (p.Tyr535=) rs11601907
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.22del (p.Val8fs) rs794728565
NM_181798.1(KCNQ1):c.263T>G (p.Val88Gly) rs368011737
NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe) rs886048163
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.339C>T (p.His113=) rs28730754
NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) rs1554893092
NM_181798.1(KCNQ1):c.362_363delinsTC (p.Trp121Phe) rs397508123
NM_181798.1(KCNQ1):c.400-6G>T rs886048164
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.445del (p.Ser149fs) rs786204778
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.54C>T (p.Ile18=) rs1800170
NM_181798.1(KCNQ1):c.591C>T (p.Val197=) rs554518844
NM_181798.1(KCNQ1):c.6-7C>T rs201682200
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) rs397508110
NM_181798.1(KCNQ1):c.729G>A (p.Ala243=) rs1805118
NM_181798.1(KCNQ1):c.747+5G>A rs76735093
NM_181798.1(KCNQ1):c.768dup (p.Ala257fs) rs397508079
NM_181798.1(KCNQ1):c.78G>A (p.Thr26=) rs148121889
NM_181798.1(KCNQ1):c.798G>T (p.Lys266Asn) rs12720457
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.808del (p.Arg270fs) rs397508081
NM_181798.1(KCNQ1):c.841C>G (p.Pro281Ala) rs28730756
NM_181798.1(KCNQ1):c.870+13C>T rs201364493
NM_181798.1(KCNQ1):c.96+9C>T rs28730664
NM_181798.1(KCNQ1):c.97-10G>A rs28730752
NM_181798.1(KCNQ1):c.97-8C>T rs150711844
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963

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