ClinVar Miner

List of variants reported as pathogenic for Long QT syndrome 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365

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