ClinVar Miner

List of variants in gene SCN1B studied for epilepsy

Included ClinVar conditions (435):
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Gene type:
ClinVar version:
Total variants: 93
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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.267C>T (p.Arg89=) rs140949982 0.00232
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.448+321G>A rs72558028 0.00173
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.632G>A (p.Cys211Tyr) rs150721582 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.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001037.5(SCN1B):c.-123A>T rs1034432673 0.00008
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile) rs560827790 0.00006
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.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
NM_001037.5(SCN1B):c.*378G>A rs1462739595 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.448+100G>T rs779658201 0.00002
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 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.133C>T (p.Arg45Cys) rs757554677 0.00001
NM_001037.5(SCN1B):c.150C>T (p.Asn50=) rs147073518 0.00001
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys) rs774152936 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781 0.00001
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys) rs1351632820 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.396C>T (p.Tyr132=) rs181115510 0.00001
NM_001037.5(SCN1B):c.448+103C>T rs372041274 0.00001
NM_001037.5(SCN1B):c.448+123C>T rs771174760 0.00001
NM_001037.5(SCN1B):c.448+124G>A rs367608185 0.00001
NM_001037.5(SCN1B):c.448+192C>T rs72558027 0.00001
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp) rs749338180 0.00001
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_001037.5(SCN1B):c.*13G>A rs1555721564
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.158C>A (p.Thr53Asn) rs1568348711
NM_001037.5(SCN1B):c.208-2A>C rs724159982
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) rs1555720710
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.254G>T (p.Arg85Leu)
NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) rs121434627
NM_001037.5(SCN1B):c.289G>C (p.Gly97Arg)
NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe) rs931949929
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp) rs1600364712
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
NM_001037.5(SCN1B):c.40+2T>G
NM_001037.5(SCN1B):c.419AGA[1] (p.Lys141del)
NM_001037.5(SCN1B):c.448+349del
NM_001037.5(SCN1B):c.448+63T>C
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037.5(SCN1B):c.463G>T (p.Ala155Ser)
NM_001037.5(SCN1B):c.484A>G (p.Met162Val)
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320
NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala) rs2151748815
NM_001037.5(SCN1B):c.634A>T (p.Thr212Ser)
NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)

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