ClinVar Miner

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

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_000335.4(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000335.4(SCN5A):c.152C>T (p.Ala51Val) rs727505131
NM_000335.4(SCN5A):c.2399G>A (p.Arg800His) rs566251672
NM_000335.4(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586
NM_000335.4(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399
NM_000335.4(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186
NM_000335.4(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595
NM_000335.4(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278
NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995
NM_000335.4(SCN5A):c.5735G>A (p.Arg1912His) rs199473327
NM_000335.4(SCN5A):c.5783G>A (p.Arg1928His) rs727504822
NM_000335.4(SCN5A):c.5792C>T (p.Ala1931Val)
NM_000335.4(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.880G>A (p.Val294Met) rs199473086
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300
NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) rs1568348711
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser) rs573588965
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His)
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) rs773857091
NM_201590.3(CACNB2):c.1774C>T (p.Arg592Trp) rs546669133
NM_201590.3(CACNB2):c.218C>T (p.Ala73Val) rs200367454

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