ClinVar Miner

List of variants in gene SCN1B studied for Generalized epilepsy with febrile seizures plus, type 1

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Total variants: 53
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HGVS dbSNP gnomAD frequency
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_001037.5(SCN1B):c.*6-11C>G rs28365105 0.05977
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.*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_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001037.5(SCN1B):c.*534C>T rs72550266 0.00195
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_001037.5(SCN1B):c.-88A>C rs886054341 0.00022
NM_001037.5(SCN1B):c.*377C>T rs376707835 0.00021
NM_001037.5(SCN1B):c.*50C>T rs925616600 0.00014
NM_001037.5(SCN1B):c.-27G>C rs758958222 0.00013
NM_001037.5(SCN1B):c.-123A>T rs1034432673 0.00008
NM_001037.5(SCN1B):c.-132C>G rs886054339 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.-93G>C rs886054340 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.*378G>A rs1462739595 0.00002
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_001037.5(SCN1B):c.*305C>T rs950244470 0.00001
NM_001037.5(SCN1B):c.-31G>A rs776361009 0.00001
NM_001037.5(SCN1B):c.150C>T (p.Asn50=) rs147073518 0.00001
NM_001037.5(SCN1B):c.448+124G>A rs367608185 0.00001
NM_001037.5(SCN1B):c.*447A>G rs550484951
NM_001037.5(SCN1B):c.*464C>G rs72550264
NM_001037.5(SCN1B):c.*486C>T rs2064280155
NM_001037.5(SCN1B):c.*527T>C rs41275828
NM_001037.5(SCN1B):c.*553C>T rs2064280962
NM_001037.5(SCN1B):c.*8C>T rs2151749169
NM_001037.5(SCN1B):c.-72G>A rs1568347863
NM_001037.5(SCN1B):c.208-2A>C rs724159982
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.289G>C (p.Gly97Arg)
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
NM_001037.5(SCN1B):c.40+2T>G
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320
NM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)

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