ClinVar Miner

List of variants studied for Brugada syndrome 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418 0.00282
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) rs546669133 0.00026
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) rs144367884 0.00019
NM_201596.3(CACNB2):c.102G>T (p.Ala34=) rs370839320 0.00013
NM_201596.3(CACNB2):c.334-7A>T rs779728445 0.00009
NM_201596.3(CACNB2):c.804+665G>A rs373932682 0.00007
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr) rs140614930 0.00006
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly) rs148674271 0.00006
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr) rs139749312 0.00006
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) rs199714857 0.00006
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala) rs151274272 0.00006
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys) rs994878062 0.00006
NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys) rs111250176 0.00004
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His) rs1039406883 0.00004
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) rs730880059 0.00004
NM_201596.3(CACNB2):c.1735G>A (p.Val579Met) rs544535665 0.00004
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly) rs370475450 0.00004
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00003
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397 0.00003
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) rs755387775 0.00002
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln) rs144461906 0.00002
NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile) rs752546853 0.00001
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu) rs779536902 0.00001
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=) rs773373763 0.00001
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr) rs142735478 0.00001
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp) rs754596850 0.00001
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) rs761542420 0.00001
NM_201596.3(CACNB2):c.909G>A (p.Ala303=) rs144509796 0.00001
NM_201596.3(CACNB2):c.1055-7T>C rs201997903
NM_201596.3(CACNB2):c.121-2A>T rs750396182
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) rs767341738
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1688G>C (p.Arg563Pro) rs766377211
NM_201596.3(CACNB2):c.1754A>G (p.His585Arg) rs1412805204
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs) rs750015594
NM_201596.3(CACNB2):c.313G>A (p.Ala105Thr) rs773650491
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile) rs747480172
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val) rs376636577
NM_201596.3(CACNB2):c.410G>C (p.Gly137Ala) rs754596850
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu) rs375425461
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) rs889646922

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