ClinVar Miner

List of variants in gene SCN2B studied for cardiac rhythm disease

Included ClinVar conditions (118):
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_004588.5(SCN2B):c.449-12C>A rs8192613 0.45401
NM_004588.5(SCN2B):c.498C>T (p.Val166=) rs200709238 0.00039
NM_004588.5(SCN2B):c.126T>C (p.Asn42=) rs376336851 0.00015
NM_004588.5(SCN2B):c.611C>T (p.Thr204Met) rs140034265 0.00013
NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys) rs760669515 0.00012
NM_004588.5(SCN2B):c.129C>T (p.Gly43=) rs150955748 0.00009
NM_004588.5(SCN2B):c.205T>C (p.Tyr69His) rs369196654 0.00009
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln) rs774866184 0.00009
NM_004588.5(SCN2B):c.357G>A (p.Pro119=) rs149169244 0.00008
NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr) rs200264107 0.00008
NM_004588.5(SCN2B):c.135C>T (p.Asp45=) rs533110688 0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819 0.00007
NM_004588.5(SCN2B):c.140G>A (p.Arg47His) rs17121818 0.00006
NM_004588.5(SCN2B):c.470C>T (p.Thr157Met) rs760333798 0.00006
NM_004588.5(SCN2B):c.477C>T (p.Ala159=) rs777479532 0.00006
NM_004588.5(SCN2B):c.478G>A (p.Val160Met) rs774317271 0.00006
NM_004588.5(SCN2B):c.5A>G (p.His2Arg) rs765743471 0.00006
NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu) rs144248214 0.00006
NM_004588.5(SCN2B):c.356C>T (p.Pro119Leu) rs767589740 0.00004
NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln) rs753389706 0.00004
NM_004588.5(SCN2B):c.118G>A (p.Val40Ile) rs200761835 0.00003
NM_004588.5(SCN2B):c.349G>A (p.Val117Met) rs754755062 0.00003
NM_004588.5(SCN2B):c.410G>A (p.Arg137His) rs878854712 0.00003
NM_004588.5(SCN2B):c.496G>A (p.Val166Ile) rs140314864 0.00003
NM_004588.5(SCN2B):c.612G>A (p.Thr204=) rs369244943 0.00003
NM_004588.5(SCN2B):c.152C>T (p.Thr51Ile) rs765542447 0.00002
NM_004588.5(SCN2B):c.292C>T (p.Arg98Cys) rs771234231 0.00002
NM_004588.5(SCN2B):c.295G>A (p.Val99Met) rs772817742 0.00002
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) rs201373014 0.00002
NM_004588.5(SCN2B):c.523T>C (p.Leu175=) rs757644485 0.00002
NM_004588.5(SCN2B):c.615C>T (p.Asp205=) rs201971719 0.00002
NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly) rs587777023 0.00002
NM_004588.5(SCN2B):c.70+15T>C rs899592055 0.00002
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) rs72544145 0.00002
NM_004588.5(SCN2B):c.109A>G (p.Thr37Ala) rs761979593 0.00001
NM_004588.5(SCN2B):c.150C>T (p.Cys50=) rs751437266 0.00001
NM_004588.5(SCN2B):c.156C>T (p.Phe52=) rs961279155 0.00001
NM_004588.5(SCN2B):c.236T>C (p.Met79Thr) rs1192595114 0.00001
NM_004588.5(SCN2B):c.237+19G>A rs371565413 0.00001
NM_004588.5(SCN2B):c.237G>C (p.Met79Ile) rs142643516 0.00001
NM_004588.5(SCN2B):c.251G>A (p.Arg84His) rs201460753 0.00001
NM_004588.5(SCN2B):c.255G>T (p.Met85Ile) rs767512158 0.00001
NM_004588.5(SCN2B):c.324C>T (p.Tyr108=) rs981151593 0.00001
NM_004588.5(SCN2B):c.327T>C (p.Asp109=) rs776528668 0.00001
NM_004588.5(SCN2B):c.340C>T (p.Leu114=) rs961380475 0.00001
NM_004588.5(SCN2B):c.343A>G (p.Arg115Gly) rs758238682 0.00001
NM_004588.5(SCN2B):c.348C>T (p.Asn116=) rs72544144 0.00001
NM_004588.5(SCN2B):c.354G>A (p.Gln118=) rs752863331 0.00001
NM_004588.5(SCN2B):c.39C>T (p.Ser13=) rs772656576 0.00001
NM_004588.5(SCN2B):c.408C>T (p.His136=) rs780138122 0.00001
NM_004588.5(SCN2B):c.639C>T (p.Gly213=) rs371409245 0.00001
NM_004588.5(SCN2B):c.93G>T (p.Glu31Asp) rs767173208 0.00001
NC_000011.9:g.(?_118047057)_(118047146_?)del
NM_004588.5(SCN2B):c.*5T>G
NM_004588.5(SCN2B):c.108C>T (p.Ala36=)
NM_004588.5(SCN2B):c.110C>T (p.Thr37Ile)
NM_004588.5(SCN2B):c.111C>T (p.Thr37=)
NM_004588.5(SCN2B):c.114C>T (p.Leu38=) rs1478317204
NM_004588.5(SCN2B):c.116A>G (p.Asn39Ser)
NM_004588.5(SCN2B):c.117C>T (p.Asn39=)
NM_004588.5(SCN2B):c.125A>G (p.Asn42Ser) rs2135518443
NM_004588.5(SCN2B):c.139C>T (p.Arg47Cys)
NM_004588.5(SCN2B):c.144G>A (p.Leu48=) rs2135518426
NM_004588.5(SCN2B):c.145C>T (p.Pro49Ser)
NM_004588.5(SCN2B):c.154T>C (p.Phe52Leu) rs1948405888
NM_004588.5(SCN2B):c.159C>T (p.Asn53=)
NM_004588.5(SCN2B):c.191C>T (p.Ser64Phe)
NM_004588.5(SCN2B):c.238-18C>T
NM_004588.5(SCN2B):c.238-6C>T rs200842493
NM_004588.5(SCN2B):c.25C>T (p.Arg9Cys) rs878854711
NM_004588.5(SCN2B):c.267C>G (p.Asn89Lys) rs2135518217
NM_004588.5(SCN2B):c.268C>T (p.Leu90=)
NM_004588.5(SCN2B):c.274C>G (p.Leu92Val)
NM_004588.5(SCN2B):c.28C>T (p.Pro10Ser)
NM_004588.5(SCN2B):c.290A>G (p.Asp97Gly)
NM_004588.5(SCN2B):c.292C>G (p.Arg98Gly) rs771234231
NM_004588.5(SCN2B):c.295G>T (p.Val99Leu) rs772817742
NM_004588.5(SCN2B):c.299A>G (p.Glu100Gly) rs552421963
NM_004588.5(SCN2B):c.303C>T (p.Phe101=)
NM_004588.5(SCN2B):c.321G>A (p.Lys107=)
NM_004588.5(SCN2B):c.325G>A (p.Asp109Asn)
NM_004588.5(SCN2B):c.338T>C (p.Met113Thr)
NM_004588.5(SCN2B):c.344G>A (p.Arg115Lys) rs750313446
NM_004588.5(SCN2B):c.346A>G (p.Asn116Asp)
NM_004588.5(SCN2B):c.367G>A (p.Gly123Arg)
NM_004588.5(SCN2B):c.388A>T (p.Met130Leu) rs1316023322
NM_004588.5(SCN2B):c.396C>T (p.Pro132=)
NM_004588.5(SCN2B):c.412G>A (p.Gly138Ser) rs1948399832
NM_004588.5(SCN2B):c.419G>A (p.Gly140Asp)
NM_004588.5(SCN2B):c.420C>T (p.Gly140=)
NM_004588.5(SCN2B):c.446A>G (p.Glu149Gly)
NM_004588.5(SCN2B):c.448+13G>A
NM_004588.5(SCN2B):c.448+6G>C rs1948399268
NM_004588.5(SCN2B):c.449-13_449-12delinsAA rs2135517612
NM_004588.5(SCN2B):c.449-15C>T
NM_004588.5(SCN2B):c.449-2A>C rs1085307094
NM_004588.5(SCN2B):c.452C>A (p.Pro151His) rs765701955
NM_004588.5(SCN2B):c.457G>A (p.Glu153Lys)
NM_004588.5(SCN2B):c.45G>A (p.Thr15=) rs376823705
NM_004588.5(SCN2B):c.490G>A (p.Ala164Thr)
NM_004588.5(SCN2B):c.495C>T (p.Ser165=) rs1217452578
NM_004588.5(SCN2B):c.498C>G (p.Val166=) rs200709238
NM_004588.5(SCN2B):c.502G>T (p.Gly168Cys)
NM_004588.5(SCN2B):c.508C>T (p.Leu170=)
NM_004588.5(SCN2B):c.51C>A (p.Leu17=)
NM_004588.5(SCN2B):c.522C>G (p.Ile174Met)
NM_004588.5(SCN2B):c.529C>T (p.Leu177=)
NM_004588.5(SCN2B):c.53G>A (p.Ser18Asn)
NM_004588.5(SCN2B):c.546T>C (p.Cys182=)
NM_004588.5(SCN2B):c.554G>C (p.Arg185Thr)
NM_004588.5(SCN2B):c.561A>G (p.Lys187=) rs1336662030
NM_004588.5(SCN2B):c.563A>G (p.Glu188Gly) rs1948388818
NM_004588.5(SCN2B):c.567G>A (p.Gln189=) rs2135517512
NM_004588.5(SCN2B):c.573del (p.Ser192fs)
NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg) rs115353159
NM_004588.5(SCN2B):c.578C>T (p.Thr193Ile)
NM_004588.5(SCN2B):c.585C>T (p.Asp195=)
NM_004588.5(SCN2B):c.594C>T (p.Thr198=) rs1326811641
NM_004588.5(SCN2B):c.616G>A (p.Gly206Ser) rs1591444155
NM_004588.5(SCN2B):c.622G>A (p.Gly208Ser) rs1024654954
NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro) rs1064796044
NM_004588.5(SCN2B):c.630G>A (p.Pro210=) rs751230713
NM_004588.5(SCN2B):c.67T>C (p.Leu23=) rs2134623717
NM_004588.5(SCN2B):c.70+11_70+12insCT rs72544143
NM_004588.5(SCN2B):c.70+14A>T
NM_004588.5(SCN2B):c.70+17T>C
NM_004588.5(SCN2B):c.71-1G>A
NM_004588.5(SCN2B):c.81A>G (p.Gly27=)
NM_004588.5(SCN2B):c.86G>A (p.Ser29Asn)
NM_004588.5(SCN2B):c.96C>A (p.Val32=)

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