ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser) rs139494055 0.00012
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys) rs72546647 0.00006
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_015141.4(GPD1L):c.505+2T>G rs943929226 0.00003
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg) rs146477959 0.00003
NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg) rs1053382446 0.00002
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr) rs764691105 0.00002
NM_015141.4(GPD1L):c.376del (p.Glu126fs) rs761698828 0.00001
NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys) rs771369026 0.00001
NM_015141.4(GPD1L):c.416G>A (p.Arg139His) rs775043567 0.00001
NM_015141.4(GPD1L):c.482A>G (p.Glu161Gly) rs754861753 0.00001
NM_015141.4(GPD1L):c.505G>A (p.Gly169Ser) rs1446434571 0.00001
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr) rs188138719 0.00001
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu) rs1409253059 0.00001
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu) rs774304068 0.00001
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys) rs201799095 0.00001
NM_015141.4(GPD1L):c.619-9C>A rs2044880
NM_015141.4(GPD1L):c.853-2A>G rs766733448

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