ClinVar Miner

List of variants reported as likely benign 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: 43
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HGVS dbSNP
NM_000218.3(KCNQ1):c.*632C>T
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.3(KCNQ1):c.478-8C>T rs150711844
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000219.5(KCNE1):c.-628A>G rs76210431
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090
NM_000219.6(KCNE1):c.*1666G>A rs181999033
NM_000219.6(KCNE1):c.*1838T>A rs41312369
NM_000219.6(KCNE1):c.*2000C>T rs544071641
NM_000219.6(KCNE1):c.*2150G>A rs530554373
NM_000219.6(KCNE1):c.*2194T>C rs529806670
NM_000219.6(KCNE1):c.*817A>G rs75375964
NM_000219.6(KCNE1):c.*923G>A rs182050647
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000219.6(KCNE1):c.-531C>T
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638
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.84G>A (p.Ser28=) rs17173510
NM_181798.1(KCNQ1):c.*241G>A rs142023323
NM_181798.1(KCNQ1):c.*377del rs762386874
NM_181798.1(KCNQ1):c.*464G>A rs141960532
NM_181798.1(KCNQ1):c.*731G>A rs146324627
NM_181798.1(KCNQ1):c.*806C>T rs539398869
NM_181798.1(KCNQ1):c.*889_*891AAT[1] rs546360517
NM_181798.1(KCNQ1):c.*975C>T rs74048340
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.1133+4974G>A rs188083723
NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) rs200670744
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.591C>T (p.Val197=) rs554518844

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