ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Ambry Genetics

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Total variants: 13
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HGVS dbSNP
NM_006920.6(SCN1A):c.3259del (p.Asp1087fs) rs1553540213
NM_006920.6(SCN1A):c.3582G>A (p.Trp1194Ter) rs794726720
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.3980A>C (p.Asn1327Thr) rs797044952
NM_006920.6(SCN1A):c.4186C>T (p.Arg1396Ter) rs398123593
NM_006920.6(SCN1A):c.4268G>A (p.Trp1423Ter) rs1559122263
NM_006920.6(SCN1A):c.4305+1G>C rs1553523138
NM_006920.6(SCN1A):c.4351T>C (p.Tyr1451His) rs1559119345
NM_006920.6(SCN1A):c.4417_4420del (p.Asp1473fs) rs1559118996
NM_006920.6(SCN1A):c.4488C>G (p.Tyr1496Ter) rs750997506
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4952C>T (p.Ala1651Val) rs794726839

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