ClinVar Miner

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

Included ClinVar conditions (9):
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Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
KCNQ1, IVS1
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.2(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804
NM_000218.2(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097
NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.2(KCNQ1):c.1732+5delG rs1554920833
NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190
NM_000218.2(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.2(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.2(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.2(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.2(KCNQ1):c.692G>A (p.Arg231His) rs199472709
NM_000218.2(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092
NM_000218.2(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
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

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