ClinVar Miner

List of variants reported as likely benign for Brugada syndrome by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.214-61250G>A rs10828545 0.40477
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.*2288G>A rs554155021 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_005472.5(KCNE3):c.*1514_*1515dup rs41315535
NM_005472.5(KCNE3):c.*1515dup rs41315535
NM_005472.5(KCNE3):c.*909_*910del rs757362085

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