ClinVar Miner

List of variants in gene SCN1A reported as pathogenic for genetic generalized epilepsy

Included ClinVar conditions (66):
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr) rs2105874070
NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs) rs2105868028
NM_001165963.4(SCN1A):c.1064G>A (p.Gly355Asp)
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1134_1140del (p.Met379fs)
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1210del (p.Val404fs)
NM_001165963.4(SCN1A):c.1278C>A (p.Tyr426Ter) rs146515561
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.1575_1581del (p.Glu526fs) rs1697645789
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs) rs2105844086
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter) rs1684672231
NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs) rs2105841790
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2176+2T>C
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) rs786205214
NM_001165963.4(SCN1A):c.2287del (p.Leu763fs) rs2105828550
NM_001165963.4(SCN1A):c.2295del (p.Met766fs)
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.2416-1G>A rs1553542421
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter) rs1696880667
NM_001165963.4(SCN1A):c.2483_2484del (p.Phe828fs)
NM_001165963.4(SCN1A):c.2528del (p.Ser843fs) rs2105816922
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) rs121918785
NM_001165963.4(SCN1A):c.2589+1G>T rs1057517849
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2644del (p.Ile882fs) rs2105808458
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr) rs2105808409
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_001165963.4(SCN1A):c.2748C>A (p.Tyr916Ter)
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) rs796052988
NM_001165963.4(SCN1A):c.2819C>A (p.Ser940Tyr)
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr)
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro) rs2105797671
NM_001165963.4(SCN1A):c.3016del (p.Asp1006fs) rs1696391291
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3076del (p.Tyr1025_Val1026insTer)
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.36del (p.Asp12fs) rs1684704927
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_001165963.4(SCN1A):c.473+1G>A rs794726840
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) rs796053091
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp) rs121917909
NM_001165963.4(SCN1A):c.801del (p.Gln267fs)
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter) rs1553549667
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.842C>G (p.Pro281Arg) rs796052964
NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer) rs2105888823
NM_001165963.4(SCN1A):c.986del (p.Gly329fs) rs1698186316

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