ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by OMIM

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000806.5(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_000806.5(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_003165.4(STXBP1):c.169+1G>A rs587776641
NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_006920.6(SCN1A):c.2551C>G (p.Arg851Gly) rs397514459
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
SCN1A, 1-BP DEL, 2528G
SCN1A, 1-BP DEL, 3608A
SCN1A, 2-BP DEL, 657AG
SCN1A, 6.5-KB DEL
SCN1A, EX21-26DEL

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