ClinVar Miner

List of variants in gene STXBP2 reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) rs150174842 0.00195
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) rs201407516 0.00029
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) rs535372251 0.00015
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) rs145260482 0.00005
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_006949.4(STXBP2):c.303G>A (p.Ala101=) rs766198135 0.00002
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NM_006949.4(STXBP2):c.922A>G (p.Arg308Gly) rs1365138433 0.00001
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=) rs755717157
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.680_685del (p.Arg227_Ser228del) rs2146217668

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