ClinVar Miner

List of variants reported as uncertain significance for Long QT syndrome 1 by Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.1128+4dup
NM_000218.3(KCNQ1):c.584_604+46del
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) rs765665086

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