ClinVar Miner

List of variants reported as pathogenic for Jervell-Lange Nielsen syndrome

Included ClinVar conditions (9):
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ClinVar version:
Total variants: 25
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HGVS dbSNP
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.3(KCNQ1):c.1732+5del rs1554920833
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) rs758346045
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796
NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) rs1554903804
NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) rs1554919471
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) rs199472795
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) rs120074189
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) rs120074190
NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) rs397508103
NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) rs397508117
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) rs1554893092
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) rs397508110

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