ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln) rs745645715 0.00003
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00003
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr) rs772796787
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) rs889646922

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