ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by Athena Diagnostics Inc

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.3506T>C (p.Val1169Ala) rs1380673643 0.00001
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs) rs863225034
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+6A>G rs1553529408
NM_001165963.4(SCN1A):c.4230T>G (p.Asn1410Lys) rs1691043368
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter) rs863225035
NM_001165963.4(SCN1A):c.4338+1G>T rs1553523138
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4476+6T>G rs1057523807
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn)
NM_001165963.4(SCN1A):c.4477-2A>G rs863225036
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro) rs2105462677
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4821T>G (p.Phe1607Leu) rs1241198360
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro) rs1689377026
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe) rs1553520463
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.4(SCN1A):c.5117A>G (p.Asn1706Ser) rs1553520340
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.4(SCN1A):c.5513C>G (p.Pro1838Arg) rs1553520084
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747

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