ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance for Epilepsy

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Total variants: 20
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HGVS dbSNP
NM_006920.6(SCN1A):c.*1121T>C rs886055034
NM_006920.6(SCN1A):c.*129T>G rs886055040
NM_006920.6(SCN1A):c.*1482G>A rs886055033
NM_006920.6(SCN1A):c.*1795G>A rs189183531
NM_006920.6(SCN1A):c.*1872del rs878898132
NM_006920.6(SCN1A):c.*1950G>A rs773354801
NM_006920.6(SCN1A):c.*1989C>T rs371391758
NM_006920.6(SCN1A):c.*259T>C rs886055039
NM_006920.6(SCN1A):c.*460A>C rs746164130
NM_006920.6(SCN1A):c.*672_*675del rs886055038
NM_006920.6(SCN1A):c.*878dup rs886055037
NM_006920.6(SCN1A):c.*912T>A rs886055036
NM_006920.6(SCN1A):c.*977T>C rs886055035
NM_006920.6(SCN1A):c.3480T>C (p.Pro1160=) rs886055044
NM_006920.6(SCN1A):c.3540T>C (p.Cys1180=) rs750943685
NM_006920.6(SCN1A):c.3847-10G>C rs886055043
NM_006920.6(SCN1A):c.4548+12C>T rs886055042
NM_006920.6(SCN1A):c.4698T>C (p.Asn1566=) rs145296488
NM_006920.6(SCN1A):c.4908A>G (p.Leu1636=) rs770111331
NM_006920.6(SCN1A):c.5959G>C (p.Glu1987Gln) rs886055041

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