ClinVar Miner

List of variants in gene STXBP1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.1702+1401C>T rs143950200 0.00129
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
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.1257G>A (p.Thr419=) rs377751165 0.00007
NM_001032221.6(STXBP1):c.1302G>A (p.Pro434=) rs142021261 0.00006
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
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.552G>A (p.Lys184=) rs759620661 0.00003
NM_001032221.6(STXBP1):c.660G>A (p.Gly220=) rs536049754 0.00003
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu) rs773261815 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.1599T>C (p.Ser533=) rs755906740 0.00001
NM_001032221.6(STXBP1):c.1656C>T (p.Cys552=) rs942940725 0.00001
NM_001032221.6(STXBP1):c.309C>T (p.His103=) rs763763696 0.00001
NM_001032221.6(STXBP1):c.531G>A (p.Ala177=) rs1057520999 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=) rs377721017 0.00001
GRCh37/hg19 9q34.11(chr9:130374683-130374719)x1
GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1
NM_001032221.6(STXBP1):c.1017del (p.Glu340fs) rs1841566082
NM_001032221.6(STXBP1):c.1022T>C (p.Leu341Pro)
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter) rs1841613716
NM_001032221.6(STXBP1):c.1092del (p.Lys364fs) rs1841615616
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys) rs1841616772
NM_001032221.6(STXBP1):c.1124del (p.Gly375fs)
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.123G>A (p.Leu41=) rs766840783
NM_001032221.6(STXBP1):c.123G>C (p.Leu41=)
NM_001032221.6(STXBP1):c.1249+1G>C rs1057519189
NM_001032221.6(STXBP1):c.1359+7G>T rs1841774104
NM_001032221.6(STXBP1):c.1360-3C>T
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) rs1462537561
NM_001032221.6(STXBP1):c.1461+5G>A rs1841870815
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.1606C>A (p.Arg536Ser) rs1241329041
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs) rs1842042825
NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu) rs1842044352
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.169+141G>A
NM_001032221.6(STXBP1):c.1696C>A (p.Leu566Met) rs2131536412
NM_001032221.6(STXBP1):c.170-1G>C rs112002192
NM_001032221.6(STXBP1):c.241G>C (p.Glu81Gln) rs1461664423
NM_001032221.6(STXBP1):c.313T>C (p.Phe105Leu) rs1554776849
NM_001032221.6(STXBP1):c.361T>C (p.Ser121Pro)
NM_001032221.6(STXBP1):c.405T>C (p.Ile135=)
NM_001032221.6(STXBP1):c.408A>G (p.Ala136=) rs2131455159
NM_001032221.6(STXBP1):c.429+5G>A rs1841031173
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe) rs1211863124
NM_001032221.6(STXBP1):c.512_513del (p.Arg171fs) rs1841137524
NM_001032221.6(STXBP1):c.536T>A (p.Leu179His) rs2131462929
NM_001032221.6(STXBP1):c.628G>A (p.Asp210Asn) rs1348662627
NM_001032221.6(STXBP1):c.664-1G>A rs1554777464
NM_001032221.6(STXBP1):c.698T>C (p.Leu233Pro) rs1588319482
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs) rs1841286087
NM_001032221.6(STXBP1):c.70A>G (p.Lys24Glu) rs2132436701
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro) rs2131481488
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.876C>A (p.Arg292=) rs778838622
NM_001032221.6(STXBP1):c.902+7G>C rs761007581
NM_001032221.6(STXBP1):c.906_912del (p.Glu302fs) rs1841465369
NM_001032221.6(STXBP1):c.960G>C (p.Glu320Asp) rs1588328490
NM_001032221.6(STXBP1):c.963+3A>C rs2131489143

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