ClinVar Miner

List of variants studied for Brugada syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005472.5(KCNE3):c.198T>C (p.Phe66=) rs2270676 0.12227
NM_201596.3(CACNB2):c.993G>A (p.Ser331=) rs76956014 0.00852
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=) rs34503140 0.00787
NM_201596.3(CACNB2):c.1206+6T>C rs147857449 0.00575
NM_201596.3(CACNB2):c.1488+13_1488+33dup rs757040188 0.00361
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_201596.3(CACNB2):c.804+653G>A rs142899184 0.00292
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_015141.4(GPD1L):c.981G>A (p.Val327=) rs144877595 0.00195
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_015141.4(GPD1L):c.813G>T (p.Arg271=) rs35464343 0.00031
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00015
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln) rs745645715 0.00003
NM_201596.3(CACNB2):c.120+379A>G
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=) rs143060134
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) rs61733968
NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr) rs772796787
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) rs889646922

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