ClinVar Miner

List of variants reported as pathogenic for Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118

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