ClinVar Miner

List of variants studied for generalized epilepsy with febrile seizures plus, type 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) rs777120925 0.00005
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629 0.00003
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165 0.00002
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) rs373772491 0.00002
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) rs1422284356 0.00001
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992 0.00001
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser) rs776752552 0.00001
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys) rs548487014 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2415+9A>G rs2105827142
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) rs796052985
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter) rs1553549667

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