ClinVar Miner

List of variants in gene SCN2A reported as benign for Seizures, benign familial infantile, 3

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.268-28A>G rs7593568 0.82099
NM_001040142.2(SCN2A):c.1671+49A>G rs1838846 0.82025
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_001040142.2(SCN2A):c.1672-16C>T rs1867864 0.56164
NM_001040142.2(SCN2A):c.*1713G>A rs1007722 0.37578
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_001040142.2(SCN2A):c.4255-31A>G rs1864885 0.20300
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_001040142.2(SCN2A):c.*1758C>T rs75263553 0.03304
NM_001040142.2(SCN2A):c.*2364T>G rs73969402 0.01942
NM_001040142.2(SCN2A):c.*2422G>T rs73972503 0.01941
NM_001040142.2(SCN2A):c.*2440C>G rs73972504 0.01941
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001040142.2(SCN2A):c.*2423A>G rs77976453 0.00934
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001040142.2(SCN2A):c.*417C>T rs141754622 0.00527
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.*1507T>G rs149580267 0.00297
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001040142.2(SCN2A):c.*1036T>C rs562663760 0.00256
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001040142.2(SCN2A):c.*853C>T rs188104763 0.00251
NM_001040142.2(SCN2A):c.*557G>A rs182846824 0.00235
NM_001040142.2(SCN2A):c.*1056T>C rs184628337 0.00195
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
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.*1474G>A rs138232803 0.00124
NM_001040142.2(SCN2A):c.*2222G>A rs187365022 0.00104
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.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
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.4565G>C (p.Gly1522Ala) rs147522594 0.00016
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.5931T>C (p.Ser1977=) rs187728892 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.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.2175C>T (p.Cys725=) rs768349308 0.00002
NM_001040142.2(SCN2A):c.*1753C>T rs74881341 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001

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