ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by Mendelics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NC_000002.12:g.166051989del
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer)
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)
NM_001032221.6(STXBP1):c.430-1G>A
NM_001032221.6(STXBP1):c.579-1G>A
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_006920.6(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_006920.6(SCN1A):c.1028+1G>A
NM_006920.6(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.126dup (p.Asp43fs)
NM_006920.6(SCN1A):c.1543A>T (p.Lys515Ter)
NM_006920.6(SCN1A):c.207del (p.Pro70fs)
NM_006920.6(SCN1A):c.2098C>T (p.Gln700Ter)
NM_006920.6(SCN1A):c.2114_2117del (p.Ile705fs)
NM_006920.6(SCN1A):c.2382+1G>A
NM_006920.6(SCN1A):c.262_264+1del
NM_006920.6(SCN1A):c.2658G>T (p.Leu886Phe)
NM_006920.6(SCN1A):c.3278C>G (p.Ser1093Ter)
NM_006920.6(SCN1A):c.3463C>T (p.Gln1155Ter) rs368609628
NM_006920.6(SCN1A):c.3498_3501dup (p.Ala1168fs)
NM_006920.6(SCN1A):c.3578G>A (p.Trp1193Ter) rs1559149128
NM_006920.6(SCN1A):c.3724_3730dup (p.Ala1244fs)
NM_006920.6(SCN1A):c.3970-1G>A
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys)
NM_006920.6(SCN1A):c.4506dup (p.Leu1503fs)
NM_006920.6(SCN1A):c.4671T>A (p.Tyr1557Ter)
NM_006920.6(SCN1A):c.5184del (p.Asp1729fs)
NM_006920.6(SCN1A):c.5252G>A (p.Gly1751Glu) rs121917950
NM_006920.6(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_006920.6(SCN1A):c.684del (p.Val229fs)
NM_006920.6(SCN1A):c.986G>T (p.Gly329Val) rs779184118

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