ClinVar Miner

List of variants in gene STXBP2 reported as pathogenic

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp) rs769717341 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NC_000019.9:g.(?_7709480)_(7712696_?)del
NM_006949.4(STXBP2):c.1003C>T (p.Gln335Ter)
NM_006949.4(STXBP2):c.1008C>G (p.Tyr336Ter)
NM_006949.4(STXBP2):c.1009C>T (p.Gln337Ter)
NM_006949.4(STXBP2):c.1116dup (p.Met373fs)
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1146del (p.Lys383fs) rs2146226413
NM_006949.4(STXBP2):c.1207_1208del (p.Lys403fs)
NM_006949.4(STXBP2):c.1254_1257del (p.Ser418fs)
NM_006949.4(STXBP2):c.1294C>T (p.Gln432Ter)
NM_006949.4(STXBP2):c.132C>A (p.Cys44Ter)
NM_006949.4(STXBP2):c.1342_1346dup (p.Asn450fs)
NM_006949.4(STXBP2):c.134del (p.Cys45fs) rs1568463402
NM_006949.4(STXBP2):c.1364_1377del (p.Gly455fs)
NM_006949.4(STXBP2):c.1382del (p.Glu461fs)
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.187_190del (p.Lys63fs) rs1217060412
NM_006949.4(STXBP2):c.212_213del (p.Leu71fs) rs1555769166
NM_006949.4(STXBP2):c.260del (p.Leu87fs) rs1599395085
NM_006949.4(STXBP2):c.284del (p.Pro95fs) rs1158166238
NM_006949.4(STXBP2):c.297C>G (p.Tyr99Ter)
NM_006949.4(STXBP2):c.34dup (p.Glu12fs)
NM_006949.4(STXBP2):c.420C>A (p.Tyr140Ter)
NM_006949.4(STXBP2):c.430-1G>A
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006949.4(STXBP2):c.539_540delinsAA (p.Cys180Ter) rs2146216115
NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)
NM_006949.4(STXBP2):c.607del (p.His203fs) rs2031907358
NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro) rs121918541
NM_006949.4(STXBP2):c.661G>T (p.Glu221Ter)
NM_006949.4(STXBP2):c.693_695del (p.Ile232del) rs1599398298
NM_006949.4(STXBP2):c.706del (p.Ala236fs) rs2146217813
NM_006949.4(STXBP2):c.708_794delinsCTGGAACGTGAGCTCATGCA (p.Ala237fs)
NM_006949.4(STXBP2):c.71_72del (p.Lys24fs)
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_006949.4(STXBP2):c.859_883del (p.Leu287fs)
NM_006949.4(STXBP2):c.864G>A (p.Trp288Ter)
NM_006949.4(STXBP2):c.87+2T>C
NM_006949.4(STXBP2):c.982C>T (p.Gln328Ter) rs2146220482

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