ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_006920.6(SCN1A):c.3576del (p.Gln1192fs)
NM_006920.6(SCN1A):c.3577T>C (p.Trp1193Arg) rs121917930
NM_006920.6(SCN1A):c.3776A>C (p.Lys1259Thr) rs121918626
NM_006920.6(SCN1A):c.4024G>C (p.Val1342Leu) rs121917954
NM_006920.6(SCN1A):c.4250T>C (p.Val1417Ala) rs121918627
NM_006920.6(SCN1A):c.4432C>A (p.Gln1478Lys) rs121918628
NM_006920.6(SCN1A):c.4434G>C (p.Gln1478His) rs121918633
NM_006920.6(SCN1A):c.4462T>C (p.Phe1488Leu) rs121918632
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4910G>A (p.Arg1637His) rs121918622
NM_006920.6(SCN1A):c.4935C>G (p.Ile1645Met) rs121917955
NM_006920.6(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629

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