ClinVar Miner

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

Included ClinVar conditions (12):
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Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp)
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val)
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile)
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3716C>T (p.Thr1239Met) rs140731963
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.4523C>T (p.Pro1508Leu) rs372425457
NM_006920.6(SCN1A):c.4822A>G (p.Met1608Val) rs373967247
NM_006920.6(SCN1A):c.5648T>C (p.Met1883Thr) rs562208324
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala)

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