ClinVar Miner

List of variants in gene STXBP1 reported as likely pathogenic for not provided

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Total variants: 35
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys) rs1841616772
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001032221.6(STXBP1):c.1315A>T (p.Ile439Phe)
NM_001032221.6(STXBP1):c.1360-2A>G rs1057522982
NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn) rs1564355642
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs) rs2132444703
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1461G>C (p.Glu487Asp) rs1554778676
NM_001032221.6(STXBP1):c.1549G>T (p.Ala517Ser) rs1057518123
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp) rs1057523381
NM_001032221.6(STXBP1):c.164T>C (p.Ile55Thr) rs2132444862
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe) rs1211863124
NM_001032221.6(STXBP1):c.536T>A (p.Leu179His) rs2131462929
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.664-1G>A rs1554777464
NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn) rs1085308022
NM_001032221.6(STXBP1):c.707G>A (p.Gly236Asp) rs1554777474
NM_001032221.6(STXBP1):c.721T>A (p.Ser241Thr) rs2131472700
NM_001032221.6(STXBP1):c.722C>A (p.Ser241Tyr) rs2131472708
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.767T>C (p.Leu256Pro) rs1057524834
NM_001032221.6(STXBP1):c.767TGC[3] (p.Leu257dup) rs1554777488
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro) rs2131481488
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.872T>C (p.Leu291Pro) rs1131691928
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.877C>T (p.His293Tyr) rs1057517880
NM_001032221.6(STXBP1):c.889G>T (p.Ala297Ser)
NM_001032221.6(STXBP1):c.902+4A>G rs1554777733
NM_001032221.6(STXBP1):c.915del (p.Ser306fs) rs2131488897
NM_001032221.6(STXBP1):c.963+3A>C rs2131489143
NM_003165.6(STXBP1):c.1708A>G (p.Thr570Ala) rs1131691742

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