ClinVar Miner

List of variants studied for Brugada syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_201596.3(CACNB2):c.994G>T (p.Val332Leu) rs369543094 0.00002
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=) rs2061958215
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser) rs1169229420
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=) rs1375890695
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val) rs774917987
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211

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