ClinVar Miner

List of variants in gene SCN3A studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (68):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=) rs1946892 0.51537
NM_006922.4(SCN3A):c.695-46A>G rs9333576 0.22613
NM_006922.4(SCN3A):c.602+9C>T rs7579000 0.22520
NM_006922.4(SCN3A):c.968-20G>T rs11887309 0.22426
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) rs16850131 0.21998
NM_006922.4(SCN3A):c.1381-34G>A rs58539679 0.21988
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) rs62174900 0.16330
NM_006922.4(SCN3A):c.4432-14T>C rs73969177 0.00780
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_006922.4(SCN3A):c.171T>C (p.Ala57=) rs111389453 0.00278
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=) rs144587694 0.00035
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.2391+3A>G rs369416840 0.00009
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336 0.00006
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg) rs577933870 0.00006
NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys) rs184544899 0.00006
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502 0.00005
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) rs751294193 0.00004
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) rs758906955 0.00004
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val) rs769710212 0.00003
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_006922.4(SCN3A):c.2392-9A>G rs199781617 0.00001
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met) rs762536754 0.00001
NM_006922.4(SCN3A):c.4G>A (p.Ala2Thr) rs772128810 0.00001
NM_006922.4(SCN3A):c.694+3G>T rs767084097 0.00001
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro) rs2105890565
NM_006922.4(SCN3A):c.-50-2312T>C rs1690638367
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala) rs1159568725
NM_006922.4(SCN3A):c.1580A>C (p.Glu527Ala) rs1688370923
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr) rs2105833109
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr) rs1687091780
NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val) rs894700711
NM_006922.4(SCN3A):c.3232A>G (p.Ser1078Gly) rs1060500006
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His) rs1574158109
NM_006922.4(SCN3A):c.3499G>A (p.Ala1167Thr) rs1259561654
NM_006922.4(SCN3A):c.3629C>T (p.Thr1210Ile) rs2105710443
NM_006922.4(SCN3A):c.3683T>C (p.Ile1228Thr)
NM_006922.4(SCN3A):c.3989G>A (p.Gly1330Glu) rs1060500003
NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter)
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=) rs1553517046
NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln) rs774354894
NM_006922.4(SCN3A):c.595G>A (p.Val199Met)
NM_006922.4(SCN3A):c.603-119C>T
NM_006922.4(SCN3A):c.603-3_603-2del rs770371377

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