ClinVar Miner

List of variants reported as likely benign 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: 76
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HGVS dbSNP
NM_000218.2(KCNQ1):c.*219G>A rs45477500
NM_000218.2(KCNQ1):c.*241G>A rs142023323
NM_000218.2(KCNQ1):c.*264T>C rs45579540
NM_000218.2(KCNQ1):c.*266G>A rs113029000
NM_000218.2(KCNQ1):c.*305A>C rs45570140
NM_000218.2(KCNQ1):c.*350G>A rs114877430
NM_000218.2(KCNQ1):c.*377delG rs762386874
NM_000218.2(KCNQ1):c.*411C>T rs45460605
NM_000218.2(KCNQ1):c.*464G>A rs141960532
NM_000218.2(KCNQ1):c.*482G>A rs45510192
NM_000218.2(KCNQ1):c.*717T>G rs189162344
NM_000218.2(KCNQ1):c.*731G>A rs146324627
NM_000218.2(KCNQ1):c.*742G>A rs114844136
NM_000218.2(KCNQ1):c.*806C>T rs539398869
NM_000218.2(KCNQ1):c.*837G>A rs139633955
NM_000218.2(KCNQ1):c.*892_*894delAAT rs546360517
NM_000218.2(KCNQ1):c.*904T>C rs186055804
NM_000218.2(KCNQ1):c.*975C>T rs74048340
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1393+21526C>T rs72847701
NM_000218.2(KCNQ1):c.1393+21538C>T rs72850203
NM_000218.2(KCNQ1):c.1393+22646C>G rs146407692
NM_000218.2(KCNQ1):c.1394-14C>T rs28730758
NM_000218.2(KCNQ1):c.1394-8C>T rs371488379
NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.2(KCNQ1):c.1514+4974G>A rs188083723
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844
NM_000219.5(KCNE1):c.*1226_*1229delGCCG rs551512090
NM_000219.5(KCNE1):c.*1338C>T rs74508995
NM_000219.5(KCNE1):c.*1574C>T rs561997378
NM_000219.5(KCNE1):c.*1666G>A rs181999033
NM_000219.5(KCNE1):c.*1815A>G rs57555550
NM_000219.5(KCNE1):c.*1838T>A rs41312369
NM_000219.5(KCNE1):c.*196C>G rs76568182
NM_000219.5(KCNE1):c.*2000C>T rs544071641
NM_000219.5(KCNE1):c.*2001G>A rs41314799
NM_000219.5(KCNE1):c.*2098T>C rs41312993
NM_000219.5(KCNE1):c.*2103C>T rs41312367
NM_000219.5(KCNE1):c.*2150G>A rs530554373
NM_000219.5(KCNE1):c.*2194T>C rs529806670
NM_000219.5(KCNE1):c.*2461A>G rs13050198
NM_000219.5(KCNE1):c.*268C>T rs41314807
NM_000219.5(KCNE1):c.*30C>G rs150963475
NM_000219.5(KCNE1):c.*373A>G rs41314805
NM_000219.5(KCNE1):c.*493C>T rs77190660
NM_000219.5(KCNE1):c.*553A>G rs570907779
NM_000219.5(KCNE1):c.*817A>G rs75375964
NM_000219.5(KCNE1):c.*923G>A rs182050647
NM_000219.5(KCNE1):c.*946delG rs142762112
NM_000219.5(KCNE1):c.-100T>C rs41314819
NM_000219.5(KCNE1):c.-253A>G rs41315471
NM_000219.5(KCNE1):c.-375A>G rs41315349
NM_000219.5(KCNE1):c.-377+13G>A rs41315351
NM_000219.5(KCNE1):c.-432G>A rs539503433
NM_000219.5(KCNE1):c.-628A>G rs76210431
NM_000219.5(KCNE1):c.-82T>G rs145416040
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.5(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.5(KCNE1):c.84G>A (p.Ser28=) rs17173510

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