ClinVar Miner

List of variants reported as likely pathogenic for Jervell and Lange-Nielsen syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) rs786204778

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