ClinVar Miner

List of variants in gene STXBP1 studied for Inborn genetic diseases

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001032221.6(STXBP1):c.201G>A (p.Pro67=) rs377398330 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.1386G>A (p.Pro462=) rs201146381 0.00005
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00005
NM_001032221.6(STXBP1):c.132C>T (p.Cys44=) rs373660650 0.00004
NM_001032221.6(STXBP1):c.1182G>A (p.Leu394=) rs767697287 0.00003
NM_001032221.6(STXBP1):c.417G>T (p.Pro139=) rs931563377 0.00003
NM_001032221.6(STXBP1):c.552G>A (p.Lys184=) rs759620661 0.00003
NM_001032221.6(STXBP1):c.255C>T (p.His85=) rs768884290 0.00002
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile) rs1046891783 0.00001
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=) rs767843953 0.00001
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His) rs749244650 0.00001
NM_001032221.6(STXBP1):c.168G>A (p.Thr56=) rs1241441075 0.00001
NM_001032221.6(STXBP1):c.1763C>T (p.Thr588Ile) rs1346726468 0.00001
NM_001032221.6(STXBP1):c.237A>T (p.Pro79=) rs758203394 0.00001
NM_001032221.6(STXBP1):c.257C>G (p.Ser86Cys) rs1182223011 0.00001
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp) rs764758291 0.00001
NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met) rs1410933215 0.00001
NM_001032221.6(STXBP1):c.511C>T (p.Arg171Cys) rs201772971 0.00001
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=) rs377721017 0.00001
NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser) rs757607352 0.00001
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001032221.6(STXBP1):c.1017A>G (p.Lys339=) rs1554778140
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=) rs1554778227
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1304del (p.Glu435fs)
NM_001032221.6(STXBP1):c.1359+2T>C rs1554778509
NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu) rs1840656743
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln) rs1381421236
NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)
NM_001032221.6(STXBP1):c.1420C>G (p.Gln474Glu)
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1453A>G (p.Ile485Val)
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His) rs1244732832
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe) rs1554778810
NM_001032221.6(STXBP1):c.1484A>G (p.Asp495Gly)
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.1548-8_1548-3del rs768558279
NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter) rs767199598
NM_001032221.6(STXBP1):c.1631del (p.Gly544fs) rs1554778941
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.1672C>A (p.Gln558Lys)
NM_001032221.6(STXBP1):c.207C>T (p.Pro69=) rs1417891697
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His) rs1840970680
NM_001032221.6(STXBP1):c.284C>T (p.Pro95Leu)
NM_001032221.6(STXBP1):c.298del (p.Arg100fs) rs1554776842
NM_001032221.6(STXBP1):c.311T>A (p.Val104Asp) rs1840975456
NM_001032221.6(STXBP1):c.417G>A (p.Pro139=) rs931563377
NM_001032221.6(STXBP1):c.429G>A (p.Gln143=) rs1841030849
NM_001032221.6(STXBP1):c.496A>G (p.Asn166Asp)
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.635A>G (p.Tyr212Cys) rs1554777372
NM_001032221.6(STXBP1):c.639dup (p.Ala214fs) rs1554777375
NM_001032221.6(STXBP1):c.679C>T (p.Arg227Cys)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter) rs1841291684
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu) rs796053361
NM_001032221.6(STXBP1):c.887T>A (p.Ile296Asn)
NM_001032221.6(STXBP1):c.930T>G (p.Phe310Leu) rs1841466284
NM_001032221.6(STXBP1):c.948G>A (p.Met316Ile) rs1564352598
NM_001032221.6(STXBP1):c.956del (p.Gly319fs) rs1554777919
NM_001032221.6(STXBP1):c.963G>C (p.Lys321Asn) rs1554777932
NM_001032221.6(STXBP1):c.970A>G (p.Met324Val)
NM_001032221.6(STXBP1):c.989dup (p.Met330fs) rs1841564743
NM_001032221.6(STXBP1):c.99G>A (p.Val33=)

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