ClinVar Miner

List of variants in gene SCN2A reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 78
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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.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.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
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.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991 0.00031
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956 0.00016
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
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.4989C>T (p.Ile1663=) rs373347369 0.00010
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.1384-4C>G rs113191507 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.5568C>T (p.Asp1856=) rs144058186 0.00008
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00008
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482 0.00006
NM_001040142.2(SCN2A):c.4221C>T (p.Asn1407=) rs747792907 0.00006
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His) rs747710683 0.00004
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=) rs2227900 0.00003
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=) rs747402663 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=) rs760647603 0.00003
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=) rs776892826 0.00003
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769 0.00002
NM_001040142.2(SCN2A):c.3195C>A (p.Leu1065=) rs150369313 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=) rs552725434 0.00002
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=) rs757986594 0.00002
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro) rs558887330 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.3133C>T (p.Leu1045=) rs369128399 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00001
NM_001040142.2(SCN2A):c.3561A>G (p.Glu1187=) rs1388551340 0.00001
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020 0.00001
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=) rs1225687118 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880 0.00001
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=) rs746574956 0.00001
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001040142.2(SCN2A):c.1113T>C (p.Ser371=) rs1438036303
NM_001040142.2(SCN2A):c.1146T>C (p.Thr382=)
NM_001040142.2(SCN2A):c.1248A>G (p.Leu416=)
NM_001040142.2(SCN2A):c.2226T>C (p.Cys742=) rs1553574579
NM_001040142.2(SCN2A):c.3840G>C (p.Leu1280=)
NM_001040142.2(SCN2A):c.3861T>G (p.Val1287=) rs1701137260
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4461C>T (p.Asp1487=) rs1553462203
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.5136C>T (p.Thr1712=)
NM_001040142.2(SCN2A):c.555A>G (p.Thr185=) rs1485827292
NM_001040142.2(SCN2A):c.5613G>A (p.Glu1871=) rs1558886661
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
NM_001040142.2(SCN2A):c.5815G>C (p.Glu1939Gln)
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.795A>C (p.Ile265=)

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