ClinVar Miner

List of variants studied for Dravet syndrome by GeneReviews

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) rs796053355
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_003165.4(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_003165.4(STXBP1):c.902+1G>A rs886041978
NM_003165.6(STXBP1):c.1217G>A rs886041246

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