ClinVar Miner

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

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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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_001037.5(SCN1B):c.40+15G>T rs72556351 0.19938
NM_001037.5(SCN1B):c.*86A>C rs2278996 0.14285
NM_001037.5(SCN1B):c.*42T>C rs2278995 0.14069
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_001037.5(SCN1B):c.*6-11C>G rs28365105 0.05977
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_001037.5(SCN1B):c.207+14G>A rs16969924 0.02860
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
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_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
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_001037.5(SCN1B):c.*202C>T rs72550275 0.00693
NM_001037.5(SCN1B):c.*454C>A rs72550263 0.00642
NM_001037.5(SCN1B):c.*76G>T rs367768639 0.00605
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_001037.5(SCN1B):c.-95C>T rs569134158 0.00572
NM_001037.5(SCN1B):c.*102A>T rs72550274 0.00564
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_001037.5(SCN1B):c.*401G>A rs72550268 0.00514
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_001037.5(SCN1B):c.*534C>T rs72550266 0.00195
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_001037.5(SCN1B):c.*377C>T rs376707835 0.00021
NM_001037.5(SCN1B):c.-27G>C rs758958222 0.00013
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.636G>A (p.Thr212=) rs763715229 0.00002
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
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] rs71057834
NM_001037.5(SCN1B):c.*447A>G rs550484951
NM_001037.5(SCN1B):c.*527T>C rs41275828
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320

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