ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000218.2(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.2(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.2(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.2(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445

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