ClinVar Miner

List of variants studied for Dravet syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.2(SCN1A):c.126delA (p.Asp43Metfs) rs1553560831
NM_006920.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.4(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624

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