ClinVar Miner

List of variants reported as uncertain significance for Jervell-Lange Nielsen syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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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.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
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.1394-13A>G
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
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_000219.5(KCNE1):c.-561C>T rs886057028
NM_000219.5(KCNE1):c.-605G>A rs780282543
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1078G>A
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1290G>A
NM_000219.6(KCNE1):c.*1338C>T rs74508995
NM_000219.6(KCNE1):c.*1447C>G rs886057020
NM_000219.6(KCNE1):c.*1539C>A
NM_000219.6(KCNE1):c.*1542G>A
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.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1831C>T rs41314065
NM_000219.6(KCNE1):c.*1832C>T rs886057016
NM_000219.6(KCNE1):c.*1857G>A
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.*2001G>A rs41314799
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2206G>A
NM_000219.6(KCNE1):c.*2298C>G
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2393C>T
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*2475A>G
NM_000219.6(KCNE1):c.*278A>T
NM_000219.6(KCNE1):c.*30C>G rs150963475
NM_000219.6(KCNE1):c.*366A>C
NM_000219.6(KCNE1):c.*373A>G rs41314805
NM_000219.6(KCNE1):c.*375C>T
NM_000219.6(KCNE1):c.*457G>A rs886057024
NM_000219.6(KCNE1):c.*493C>T rs77190660
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*960C>T
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-101A>T rs74706643
NM_000219.6(KCNE1):c.-13C>T rs745925445
NM_000219.6(KCNE1):c.-170C>T
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-24A>G
NM_000219.6(KCNE1):c.-298C>T rs78250687
NM_000219.6(KCNE1):c.-334G>A
NM_000219.6(KCNE1):c.-377+13G>A rs41315351
NM_000219.6(KCNE1):c.-432G>A rs539503433
NM_000219.6(KCNE1):c.-467A>T rs558817846
NM_000219.6(KCNE1):c.-521G>A
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.-5C>A rs191334763
NM_000219.6(KCNE1):c.-82T>G rs145416040
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala)
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111
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.*266G>A rs113029000
NM_181798.1(KCNQ1):c.*26C>A rs886048166
NM_181798.1(KCNQ1):c.*292C>A rs886048169
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.*47A>C rs754931159
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.*837G>A rs139633955
NM_181798.1(KCNQ1):c.*877C>G rs763163556
NM_181798.1(KCNQ1):c.*887_*889del rs886048175
NM_181798.1(KCNQ1):c.*897G>T rs561861522
NM_181798.1(KCNQ1):c.*904T>C rs186055804
NM_181798.1(KCNQ1):c.1095A>G (p.Glu365=) rs370676650
NM_181798.1(KCNQ1):c.1133+3G>A rs374767819
NM_181798.1(KCNQ1):c.1133+9C>T rs770840921
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.1592C>A (p.Thr531Asn) rs377661455
NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His) rs886048165
NM_181798.1(KCNQ1):c.267C>A (p.Gly89=) rs146350010
NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe) rs886048163
NM_181798.1(KCNQ1):c.400-6G>T rs886048164
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.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.870+13C>T rs201364493
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.974G>A (p.Arg325Gln) rs145229963
NM_181798.1(KCNQ1):c.994G>A (p.Asp332Asn) rs747704276

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