ClinVar Miner

List of variants in gene SCN3B reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001040151.2(SCN3B):c.413C>T (p.Thr138Met) rs761964055 0.00009
NM_001040151.2(SCN3B):c.585-4A>G rs745830643 0.00008
NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly) rs587777555 0.00004
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) rs770801747 0.00004
NM_001040151.2(SCN3B):c.98C>T (p.Thr33Met) rs140041927 0.00004
NM_001040151.2(SCN3B):c.14A>G (p.Asn5Ser) rs369522500 0.00003
NM_001040151.2(SCN3B):c.395G>A (p.Arg132Gln) rs755967151 0.00003
NM_001040151.2(SCN3B):c.415C>T (p.Arg139Trp) rs368054375 0.00003
NM_001040151.2(SCN3B):c.232C>T (p.Arg78Trp) rs764587765 0.00002
NM_001040151.2(SCN3B):c.233G>A (p.Arg78Gln) rs375545539 0.00002
NM_001040151.2(SCN3B):c.394C>T (p.Arg132Trp) rs371558196 0.00002
NM_001040151.2(SCN3B):c.55+3A>G rs767074394 0.00002
NM_001040151.2(SCN3B):c.59G>A (p.Ser20Asn) rs779277447 0.00002
NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser) rs781244975 0.00002
NM_001040151.2(SCN3B):c.260C>G (p.Pro87Arg) rs371050389 0.00001
NM_001040151.2(SCN3B):c.-4G>T
NM_001040151.2(SCN3B):c.118C>A (p.Pro40Thr)
NM_001040151.2(SCN3B):c.121A>G (p.Met41Val)
NM_001040151.2(SCN3B):c.130C>T (p.Arg44Cys)
NM_001040151.2(SCN3B):c.197C>T (p.Pro66Leu)
NM_001040151.2(SCN3B):c.205G>A (p.Gly69Ser) rs1020414330
NM_001040151.2(SCN3B):c.253G>C (p.Glu85Gln)
NM_001040151.2(SCN3B):c.256del (p.Ser86fs) rs1955806072
NM_001040151.2(SCN3B):c.266del (p.Gln89fs)
NM_001040151.2(SCN3B):c.272G>A (p.Arg91His)
NM_001040151.2(SCN3B):c.272G>T (p.Arg91Leu)
NM_001040151.2(SCN3B):c.291C>G (p.Ser97Arg)
NM_001040151.2(SCN3B):c.301C>A (p.Gln101Lys)
NM_001040151.2(SCN3B):c.31_55+2del
NM_001040151.2(SCN3B):c.354C>G (p.Tyr118Ter)
NM_001040151.2(SCN3B):c.370C>T (p.Arg124Trp)
NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)
NM_001040151.2(SCN3B):c.384T>G (p.Phe128Leu)
NM_001040151.2(SCN3B):c.389C>A (p.Ala130Glu) rs587777556
NM_001040151.2(SCN3B):c.392_397del (p.His131_Arg132del) rs2137241970
NM_001040151.2(SCN3B):c.409ACG[1] (p.Thr138del) rs72552144
NM_001040151.2(SCN3B):c.438_439delinsTA (p.Glu147Lys)
NM_001040151.2(SCN3B):c.439G>A (p.Glu147Lys)
NM_001040151.2(SCN3B):c.441G>T (p.Glu147Asp)
NM_001040151.2(SCN3B):c.454G>A (p.Asp152Asn)
NM_001040151.2(SCN3B):c.47T>C (p.Ile16Thr)
NM_001040151.2(SCN3B):c.484A>G (p.Met162Val)
NM_001040151.2(SCN3B):c.486G>A (p.Met162Ile)
NM_001040151.2(SCN3B):c.517C>G (p.Leu173Val)
NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)
NM_001040151.2(SCN3B):c.562G>A (p.Glu188Lys)
NM_001040151.2(SCN3B):c.565G>A (p.Glu189Lys)
NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)
NM_001040151.2(SCN3B):c.591dup (p.Tyr198fs) rs1555114543
NM_001040151.2(SCN3B):c.608C>T (p.Ser203Phe)
NM_001040151.2(SCN3B):c.628G>A (p.Ala210Thr)
NM_001040151.2(SCN3B):c.62T>C (p.Val21Ala)
NM_001040151.2(SCN3B):c.631G>A (p.Val211Ile)
NM_001040151.2(SCN3B):c.73G>C (p.Val25Leu)
NM_001040151.2(SCN3B):c.74T>C (p.Val25Ala)
NM_001040151.2(SCN3B):c.83A>G (p.Glu28Gly)

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