ClinVar Miner

List of variants studied for Dravet syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter)
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val)
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=)
NM_003165.4(STXBP1):c.256_257TC[4] (p.Ile88fs) rs1554776831
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) rs796053355
NM_006920.6(SCN1A):c.4882C>G (p.Arg1628Gly)
NM_006920.6(SCN1A):c.5033T>C (p.Met1678Thr) rs1559104676
NM_006920.6(SCN1A):c.602+1G>A rs794726827

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