ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_006920.6(SCN1A):c.3273C>A (p.Tyr1091Ter) rs863225032
NM_006920.6(SCN1A):c.3463C>T (p.Gln1155Ter) rs368609628
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3624G>A (p.Trp1208Ter) rs863225033
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3819del (p.Trp1273fs) rs863225034
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.4233T>A (p.Tyr1411Ter) rs863225035
NM_006920.6(SCN1A):c.4305+1G>T rs1553523138
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.4753C>T (p.Arg1585Cys) rs121917993
NM_006920.6(SCN1A):c.4754G>A (p.Arg1585His) rs575368466
NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter) rs199727342
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
NM_006920.6(SCN1A):c.5403G>A (p.Trp1801Ter) rs863225037
NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) rs779614747

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