ClinVar Miner

List of variants in gene SCN2A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 0.00019
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841 0.00013
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308 0.00012
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541 0.00010
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=) rs371704720 0.00009
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.2292C>T (p.Ala764=) rs760963593 0.00008
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=) rs749540280 0.00005
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546 0.00004
NM_001040142.2(SCN2A):c.1953T>C (p.Asn651=) rs199722574 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=) rs781717883 0.00004
NM_001040142.2(SCN2A):c.4842G>T (p.Leu1614=) rs148604854 0.00004
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=) rs377200041 0.00004
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=) rs532681917 0.00003
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=) rs747402663 0.00003
NM_001040142.2(SCN2A):c.1992A>G (p.Thr664=) rs368988956 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=) rs1449263336 0.00003
NM_001040142.2(SCN2A):c.1353A>G (p.Glu451=) rs559725593 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.3850-3T>C rs1445707939 0.00002
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=) rs753341735 0.00001
NM_001040142.2(SCN2A):c.1965C>T (p.Ser655=) rs914170392 0.00001
NM_001040142.2(SCN2A):c.2643A>G (p.Leu881=) rs777805952 0.00001
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00001
NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=) rs1345931602 0.00001
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040142.2(SCN2A):c.5658A>C (p.Ser1886=) rs902710874 0.00001
NM_001040142.2(SCN2A):c.618G>A (p.Glu206=) rs2228983 0.00001
NM_001040142.2(SCN2A):c.*437G>A rs553239308
NM_001040142.2(SCN2A):c.161G>A (p.Ser54Asn)
NM_001040142.2(SCN2A):c.1672-2786C>T
NM_001040142.2(SCN2A):c.1672-2816C>T
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
NM_001040142.2(SCN2A):c.2151A>G (p.Glu717=)
NM_001040142.2(SCN2A):c.2200A>G (p.Asn734Asp) rs1698664901
NM_001040142.2(SCN2A):c.2202T>C (p.Asn734=)
NM_001040142.2(SCN2A):c.231C>T (p.Pro77=)
NM_001040142.2(SCN2A):c.2667C>T (p.Ala889=)
NM_001040142.2(SCN2A):c.3123G>T (p.Pro1041=) rs147576541
NM_001040142.2(SCN2A):c.3456C>A (p.Ala1152=)
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4095T>C (p.His1365=) rs2105373121
NM_001040142.2(SCN2A):c.4146C>T (p.Asn1382=)
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4353T>G (p.Leu1451=) rs2105384625
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4557A>G (p.Lys1519=) rs1574746483
NM_001040142.2(SCN2A):c.4626C>T (p.Cys1542=) rs1553463046
NM_001040142.2(SCN2A):c.4815C>T (p.Ser1605=)
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.5211C>T (p.His1737=) rs2105402755
NM_001040142.2(SCN2A):c.5571C>T (p.Ile1857=)
NM_001040142.2(SCN2A):c.5664C>T (p.Pro1888=)
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
NM_001040142.2(SCN2A):c.603T>C (p.Phe201=) rs1697273790
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=) rs370724112
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.966T>C (p.Asp322=)

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