ClinVar Miner

List of variants in gene SCN1B reported as uncertain significance by Ambry Genetics

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Total variants: 62
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HGVS dbSNP gnomAD frequency
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.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.627G>C (p.Glu209Asp) rs745580499 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
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.623A>T (p.Lys208Ile) rs780958012 0.00002
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) rs201209882 0.00002
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met) rs1064796847 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 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.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.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.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.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.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.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.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.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.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.85G>C (p.Glu29Gln) rs767384862
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met) rs2151745336
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)

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