ClinVar Miner

List of variants in gene SCN3A reported as uncertain significance for epilepsy

Included ClinVar conditions (438):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
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.5200G>C (p.Gly1734Arg) rs577933870 0.00006
NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe) rs146618194 0.00006
NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys) rs184544899 0.00006
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.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006922.4(SCN3A):c.3682A>G (p.Ile1228Val) rs769710212 0.00003
NM_006922.4(SCN3A):c.2329A>T (p.Met777Leu) rs746866750 0.00002
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_006922.4(SCN3A):c.559C>T (p.Arg187Cys) rs777999021 0.00002
NM_006922.4(SCN3A):c.1670A>T (p.Gln557Leu) rs1049507805 0.00001
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val) rs764003738 0.00001
NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln) rs897312933 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_006922.4(SCN3A):c.83G>A (p.Arg28His) rs775711350 0.00001
NM_006922.4(SCN3A):c.-50-2312T>C rs1690638367
NM_006922.4(SCN3A):c.1032-7C>T rs1688994875
NM_006922.4(SCN3A):c.1298C>T (p.Ala433Val)
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala) rs1159568725
NM_006922.4(SCN3A):c.1485T>G (p.Ser495Arg) rs2105834282
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.1970T>C (p.Val657Ala) rs922985729
NM_006922.4(SCN3A):c.2182C>T (p.Pro728Ser) rs2105801570
NM_006922.4(SCN3A):c.2285T>C (p.Val762Ala)
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val) rs778744191
NM_006922.4(SCN3A):c.2727A>T (p.Lys909Asn)
NM_006922.4(SCN3A):c.3050A>C (p.Tyr1017Ser)
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.3328T>G (p.Ser1110Ala) rs2105761872
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.4168C>G (p.Gln1390Glu)
NM_006922.4(SCN3A):c.4457C>G (p.Thr1486Arg)
NM_006922.4(SCN3A):c.4544T>G (p.Phe1515Cys)
NM_006922.4(SCN3A):c.4783G>C (p.Val1595Leu)
NM_006922.4(SCN3A):c.4802T>C (p.Ile1601Thr)
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr) rs1685095084
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) rs1401610497
NM_006922.4(SCN3A):c.5027A>C (p.Asn1676Thr)
NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter)
NM_006922.4(SCN3A):c.5516T>C (p.Leu1839Pro)
NM_006922.4(SCN3A):c.5612G>A (p.Arg1871Gln) rs2105618139
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
NM_006922.4(SCN3A):c.655A>G (p.Arg219Gly)
NM_006922.4(SCN3A):c.764T>C (p.Val255Ala)
NM_006922.4(SCN3A):c.997G>T (p.Asp333Tyr) rs1689455424

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