ClinVar Miner

List of variants studied for Long QT syndrome 1 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193 0.00001
NM_000218.3(KCNQ1):c.1432del (p.His478fs)
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys) rs199473483

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