ClinVar Miner

List of variants reported as uncertain significance for Dravet syndrome by Mendelics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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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.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_006920.6(SCN1A):c.2010+2T>C rs1574214843
NM_006920.6(SCN1A):c.2144-2A>T rs1436792531
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile) rs745378416
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala) rs551068385

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