ClinVar Miner

List of variants studied for Long QT syndrome 1 by deCODE genetics, Amgen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180 0.00001
NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter) rs1564825392
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.788del (p.Ile263fs) rs1564821091
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309

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