ClinVar Miner

List of variants in gene SCN1A reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 40
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs) rs1684678839
NM_001165963.4(SCN1A):c.1598del (p.Gly533fs) rs1697640966
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs) rs1697464108
NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs)
NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs) rs1697164036
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2510del (p.Gly837fs) rs2105817078
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro) rs1696865258
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser) rs1696624989
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.382_383+4del
NM_001165963.4(SCN1A):c.442del (p.Ser148fs) rs1699143102
NM_001165963.4(SCN1A):c.487G>T (p.Gly163Ter) rs1553551498
NM_001165963.4(SCN1A):c.512del (p.Ile171fs) rs2105902403
NM_001165963.4(SCN1A):c.594del (p.Thr199fs) rs1698940903
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.626_694+31del
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.782_788del (p.Val260_Phe261insTer) rs1698602478
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu) rs796052964
NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter) rs1275890918
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.964+1G>C rs1574263047

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