ClinVar Miner

List of variants in gene SCN1B reported by Ambry Genetics

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Gene type:
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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
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+321G>A rs72558028 0.00173
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
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.348G>A (p.Ser116=) rs375050816 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001037.5(SCN1B):c.471C>T (p.Ile157=) rs765269835 0.00014
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001037.5(SCN1B):c.96T>C (p.Tyr32=) rs143453040 0.00008
NM_001037.5(SCN1B):c.449-3C>A rs370937269 0.00007
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile) rs560827790 0.00006
NM_001037.5(SCN1B):c.566C>T (p.Thr189Met) rs2305748 0.00006
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152 0.00005
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val) rs72552028 0.00004
NM_001037.5(SCN1B):c.258C>T (p.Phe86=) rs751009774 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.268G>A (p.Val90Met) rs778461222 0.00004
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) rs786205833 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.366C>T (p.His122=) rs761207251 0.00003
NM_001037.5(SCN1B):c.414C>T (p.Val138=) rs757116018 0.00003
NM_001037.5(SCN1B):c.627G>C (p.Glu209Asp) rs745580499 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
NM_001037.5(SCN1B):c.90C>T (p.Ala30=) rs753994622 0.00003
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile) rs754215948 0.00002
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474 0.00002
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=) rs775659068 0.00002
NM_001037.5(SCN1B):c.585G>A (p.Glu195=) rs753271148 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 0.00002
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile) rs780958012 0.00002
NM_001037.5(SCN1B):c.636G>A (p.Thr212=) rs763715229 0.00002
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) rs201209882 0.00002
NM_001037.5(SCN1B):c.63C>T (p.Cys21=) rs200339565 0.00002
NM_001037.5(SCN1B):c.84C>T (p.Thr28=) rs147616219 0.00002
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met) rs1064796847 0.00001
NM_001037.5(SCN1B):c.141C>T (p.Ser47=) rs769535020 0.00001
NM_001037.5(SCN1B):c.150C>T (p.Asn50=) rs147073518 0.00001
NM_001037.5(SCN1B):c.165C>T (p.Thr55=) rs768325106 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.228G>A (p.Glu76=) rs992954476 0.00001
NM_001037.5(SCN1B):c.249T>C (p.Asp83=) rs1234271758 0.00001
NM_001037.5(SCN1B):c.255C>G (p.Arg85=) rs1060501166 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.357C>T (p.Tyr119=) rs1266621411 0.00001
NM_001037.5(SCN1B):c.387C>T (p.Phe129=) rs891588693 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys) rs1265232012 0.00001
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr) rs1034016541 0.00001
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala) rs1487883672 0.00001
NM_001037.5(SCN1B):c.523G>A (p.Val175Met) rs776213428 0.00001
NM_001037.5(SCN1B):c.54C>T (p.Cys18=) rs1005312276 0.00001
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp) rs749338180 0.00001
NM_001037.5(SCN1B):c.570G>T (p.Glu190Asp) rs1422403439 0.00001
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro) rs765702440 0.00001
NM_001037.5(SCN1B):c.594G>A (p.Ser198=) rs112564234 0.00001
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213 0.00001
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp) rs762553865 0.00001
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837 0.00001
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_001037.5(SCN1B):c.-1C>T rs1057518527
NM_001037.5(SCN1B):c.108del (p.Phe36fs) rs1064794589
NM_001037.5(SCN1B):c.12G>A (p.Leu4=)
NM_001037.5(SCN1B):c.151G>A (p.Ala51Thr)
NM_001037.5(SCN1B):c.17C>T (p.Ala6Val)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.213G>A (p.Leu71=)
NM_001037.5(SCN1B):c.215G>A (p.Arg72His) rs770751961
NM_001037.5(SCN1B):c.229G>A (p.Val77Met)
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.281G>T (p.Gly94Val) rs2151746413
NM_001037.5(SCN1B):c.299A>G (p.Asp100Gly)
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile) rs2064228638
NM_001037.5(SCN1B):c.346T>G (p.Ser116Ala)
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.378G>A (p.Leu126=)
NM_001037.5(SCN1B):c.381C>G (p.Leu127=)
NM_001037.5(SCN1B):c.419A>C (p.Lys140Thr)
NM_001037.5(SCN1B):c.424A>G (p.Ile142Val)
NM_001037.5(SCN1B):c.448+4_448+12del rs1322172446
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr) rs1432198305
NM_001037.5(SCN1B):c.471C>G (p.Ile157Met) rs765269835
NM_001037.5(SCN1B):c.484A>G (p.Met162Val)
NM_001037.5(SCN1B):c.489G>A (p.Met163Ile) rs2151748748
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320
NM_001037.5(SCN1B):c.498C>T (p.Leu166=)
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val) rs748491132
NM_001037.5(SCN1B):c.50C>G (p.Ala17Gly)
NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
NM_001037.5(SCN1B):c.522C>A (p.Leu174=) rs35478147
NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
NM_001037.5(SCN1B):c.549G>A (p.Lys183=)
NM_001037.5(SCN1B):c.555C>T (p.Ile185=) rs1291900478
NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
NM_001037.5(SCN1B):c.565A>C (p.Thr189Pro)
NM_001037.5(SCN1B):c.565A>G (p.Thr189Ala)
NM_001037.5(SCN1B):c.569A>T (p.Glu190Val)
NM_001037.5(SCN1B):c.606C>G (p.Ala202=)
NM_001037.5(SCN1B):c.615T>C (p.Ser205=)
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
NM_001037.5(SCN1B):c.641T>C (p.Val214Ala)
NM_001037.5(SCN1B):c.646G>A (p.Val216Met)
NM_001037.5(SCN1B):c.647T>G (p.Val216Gly)
NM_001037.5(SCN1B):c.651C>T (p.Ala217=)
NM_001037.5(SCN1B):c.84C>A (p.Thr28=)
NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln) rs767384862
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met) rs2151745336
NM_001037.5(SCN1B):c.90C>A (p.Ala30=) rs753994622
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)

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