ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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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.*26C>A rs886048166
NM_000218.2(KCNQ1):c.*292C>A rs886048169
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.*47A>C rs754931159
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.*877C>G rs763163556
NM_000218.2(KCNQ1):c.*887_*889delTCA rs886048175
NM_000218.2(KCNQ1):c.*897G>T rs561861522
NM_000218.2(KCNQ1):c.-38C>T rs886048160
NM_000218.2(KCNQ1):c.-69G>A rs886048159
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.1514+3G>A rs374767819
NM_000218.2(KCNQ1):c.1514+9C>T rs770840921
NM_000218.2(KCNQ1):c.1794+12C>T rs727505084
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.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
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.781-6G>T rs886048164
NM_000219.5(KCNE1):c.*1043T>C rs886057022
NM_000219.5(KCNE1):c.*1192A>G rs886057021
NM_000219.5(KCNE1):c.*1447C>G rs886057020
NM_000219.5(KCNE1):c.*1556G>A rs886057019
NM_000219.5(KCNE1):c.*1583A>C rs886057018
NM_000219.5(KCNE1):c.*1701A>G rs886057017
NM_000219.5(KCNE1):c.*1831C>T rs41314065
NM_000219.5(KCNE1):c.*1832C>T rs886057016
NM_000219.5(KCNE1):c.*1859G>A rs754021039
NM_000219.5(KCNE1):c.*1928T>C rs886057015
NM_000219.5(KCNE1):c.*2008G>A rs886057011
NM_000219.5(KCNE1):c.*2320G>T rs745512218
NM_000219.5(KCNE1):c.*2329C>A rs373970167
NM_000219.5(KCNE1):c.*2413T>A rs747442476
NM_000219.5(KCNE1):c.*457G>A rs886057024
NM_000219.5(KCNE1):c.*91delC rs748419617
NM_000219.5(KCNE1):c.*995G>C rs886057023
NM_000219.5(KCNE1):c.-101A>T rs74706643
NM_000219.5(KCNE1):c.-13C>T rs745925445
NM_000219.5(KCNE1):c.-225G>C rs886057026
NM_000219.5(KCNE1):c.-298C>T rs78250687
NM_000219.5(KCNE1):c.-467A>T rs558817846
NM_000219.5(KCNE1):c.-522C>T rs370482882
NM_000219.5(KCNE1):c.-530G>A rs886057027
NM_000219.5(KCNE1):c.-561C>T rs886057028
NM_000219.5(KCNE1):c.-57T>C rs886057025
NM_000219.5(KCNE1):c.-605G>A rs780282543
NM_000219.5(KCNE1):c.54G>A (p.Gln18=) rs149875299

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