ClinVar Miner

List of variants reported as benign for Brugada syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117

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