ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance for obsolete Dravet syndrome

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629
NM_006920.6(SCN1A):c.3974T>G (p.Val1325Gly)

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