ClinVar Miner

List of variants reported as pathogenic for Long QT syndrome 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)	rs199472763	0.00001
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)	rs120074180	0.00001
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	rs120074177

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