ClinVar Miner

List of variants reported as pathogenic for Long QT syndrome 1 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	rs397508075	0.00001
NM_000218.3(KCNQ1):c.683+5G>A	rs397508122	0.00001

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