ClinVar Miner

List of variants reported as benign for Brugada syndrome 5 by Invitae

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+181T>C rs55742440 0.42428
NM_001037.5(SCN1B):c.40+15G>T rs72556351 0.19938
NM_001037.5(SCN1B):c.448+296C>A rs67701503 0.13979
NM_001037.5(SCN1B):c.207+14G>A rs16969924 0.02860
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
NM_001037.5(SCN1B):c.*76G>T rs367768639 0.00605
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001037.5(SCN1B):c.448+29C>T rs186759145 0.00163
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_001037.5(SCN1B):c.448+112G>A rs72558026 0.00049
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_001037.5(SCN1B):c.590+16G>A rs201053958 0.00036
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152 0.00005
NM_001037.5(SCN1B):c.208-4del
NM_001037.5(SCN1B):c.448+301G>A rs67486287
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320
NM_001037.5(SCN1B):c.591-5del rs1218360584
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) rs67486287

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