ClinVar Miner

List of variants in gene STXBP1 reported as pathogenic for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_001032221.4(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_001032221.4(STXBP1):c.87+2T>C rs1554775960
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_003165.4(STXBP1):c.1029+1G>C rs727504173
NM_003165.4(STXBP1):c.1111-2A>G rs1554778417
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_003165.4(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_003165.4(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) rs1564357089
NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_003165.4(STXBP1):c.169+1G>A rs587776641
NM_003165.4(STXBP1):c.170-2A>G rs1554776674
NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968
NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) rs121918320
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.539G>A (p.Cys180Tyr) rs121918318
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) rs796053355
NM_003165.4(STXBP1):c.578+1G>A
NM_003165.4(STXBP1):c.692dup (p.Ile232fs) rs1564351388
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003165.4(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_003165.4(STXBP1):c.902+1G>A rs886041978

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