ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.3971C>T (p.Ser1324Leu) rs756046052 0.00001
NM_017636.4(TRPM4):c.923C>T (p.Ala308Val) rs747192078 0.00001
NM_006514.4(SCN10A):c.1534C>G (p.Arg512Gly) rs200714519
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017636.4(TRPM4):c.1873+3G>T rs779988026

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