ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.*493C>T rs77190660 0.00371
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00329
NM_000219.6(KCNE1):c.-377+13G>A rs41315351 0.00323
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000219.6(KCNE1):c.*1338C>T rs74508995 0.00201
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
NM_000219.6(KCNE1):c.*1556G>A rs886057019 0.00114
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_000219.6(KCNE1):c.*2001G>A rs41314799 0.00083
NM_000219.6(KCNE1):c.*30C>G rs150963475 0.00061
NM_000219.6(KCNE1):c.*196C>G rs76568182 0.00054
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000219.6(KCNE1):c.-334G>A rs891779914 0.00041
NM_000218.3(KCNQ1):c.*391G>A rs774059974 0.00040
NM_000219.6(KCNE1):c.-101A>T rs74706643 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000219.6(KCNE1):c.*1574C>T rs561997378 0.00033
NM_000218.3(KCNQ1):c.-55G>C rs562468879 0.00030
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00026
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000219.6(KCNE1):c.-467A>T rs558817846 0.00024
NM_000219.6(KCNE1):c.*373A>G rs41314805 0.00022
NM_000219.6(KCNE1):c.-530G>A rs886057027 0.00021
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000219.6(KCNE1):c.*2475A>G rs913676929 0.00017
NM_000219.6(KCNE1):c.*1831C>T rs41314065 0.00016
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884 0.00015
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000218.3(KCNQ1):c.*266G>A rs113029000 0.00011
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.*392A>C rs868129989 0.00010
NM_000219.6(KCNE1):c.*1447C>G rs886057020 0.00010
NM_000219.6(KCNE1):c.*1859G>A rs754021039 0.00010
NM_000219.6(KCNE1):c.-82T>G rs145416040 0.00010
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000219.6(KCNE1):c.-298C>T rs78250687 0.00009
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000219.5(KCNE1):c.-605G>A rs780282543 0.00008
NM_000219.6(KCNE1):c.*1290G>A rs890174554 0.00008
NM_000218.3(KCNQ1):c.*1055C>T rs375155898 0.00007
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000219.6(KCNE1):c.*1832C>T rs886057016 0.00006
NM_000218.3(KCNQ1):c.*581T>C rs765566577 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.780+12G>A rs200796314 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000219.6(KCNE1):c.-432G>A rs539503433 0.00005
NM_000219.6(KCNE1):c.-5C>A rs191334763 0.00005
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111 0.00005
NM_000218.3(KCNQ1):c.*240C>T rs773743391 0.00004
NM_000218.3(KCNQ1):c.*554T>G rs886048172 0.00004
NM_000218.3(KCNQ1):c.*712G>A rs745447199 0.00004
NM_000218.3(KCNQ1):c.*730C>T rs930321240 0.00004
NM_000218.3(KCNQ1):c.*897G>T rs561861522 0.00004
NM_000218.3(KCNQ1):c.-38C>T rs886048160 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000219.5(KCNE1):c.-561C>T rs886057028 0.00004
NM_000218.3(KCNQ1):c.*171G>A rs886048168 0.00003
NM_000218.3(KCNQ1):c.*66C>T rs994976684 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000219.6(KCNE1):c.*457G>A rs886057024 0.00003
NM_000219.6(KCNE1):c.-13C>T rs745925445 0.00003
NM_000218.3(KCNQ1):c.*290A>G rs765204255 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000219.6(KCNE1):c.-170C>T rs1003872251 0.00002
NM_000218.3(KCNQ1):c.*295G>A rs1296388392 0.00001
NM_000218.3(KCNQ1):c.*47A>C rs754931159 0.00001
NM_000218.3(KCNQ1):c.*633G>A rs886048173 0.00001
NM_000218.3(KCNQ1):c.*652G>A rs886048174 0.00001
NM_000218.3(KCNQ1):c.*81C>T rs771815387 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1794+12C>T rs727505084 0.00001
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297 0.00001
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000219.6(KCNE1):c.-521G>A rs76286526 0.00001
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299 0.00001
NM_000218.3(KCNQ1):c.*1088G>C rs886048177
NM_000218.3(KCNQ1):c.*125C>T rs1848376672
NM_000218.3(KCNQ1):c.*160C>A rs886048167
NM_000218.3(KCNQ1):c.*26C>A rs886048166
NM_000218.3(KCNQ1):c.*292C>A rs886048169
NM_000218.3(KCNQ1):c.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*539G>C rs886048171
NM_000218.3(KCNQ1):c.*877C>G rs763163556
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1394-13A>G rs747187696
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1590+13C>A rs1846544314
NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met) rs199472819
NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr) rs1280717988
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys) rs1848365419
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.3(KCNQ1):c.387-12C>T rs1445658296
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) rs1848319199
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.684-15C>G rs752087023
NM_000218.3(KCNQ1):c.781-6G>T rs886048164
NM_000218.3(KCNQ1):c.921+12A>G rs1848365236
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1078G>A rs41312995
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1539C>A rs41314801
NM_000219.6(KCNE1):c.*1542G>A rs1448578468
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1857G>A rs1980726981
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2206G>A rs1454920552
NM_000219.6(KCNE1):c.*2298C>G rs896302148
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2393C>T rs567630448
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*278A>T rs1980898848
NM_000219.6(KCNE1):c.*366A>C rs1980887753
NM_000219.6(KCNE1):c.*375C>T rs1447216919
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*960C>T rs544365018
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-24A>G rs1476804491
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-57T>C rs886057025
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) rs1235182008

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