ClinVar Miner

List of variants in gene STXBP1 reported as uncertain significance by GeneDx

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.619G>A (p.Asp207Asn) rs770664446 0.00004
NM_001032221.6(STXBP1):c.1250G>A (p.Gly417Asp) rs796053369 0.00001
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met) rs748965227 0.00001
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr) rs148131665 0.00001
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu) rs773261815 0.00001
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His) rs796053372 0.00001
NM_001032221.6(STXBP1):c.914G>A (p.Arg305Gln) rs763559860 0.00001
NM_001032221.6(STXBP1):c.1051G>A (p.Ala351Thr)
NM_001032221.6(STXBP1):c.1093C>T (p.Leu365Phe) rs796053358
NM_001032221.6(STXBP1):c.1110+5G>C
NM_001032221.6(STXBP1):c.1193A>G (p.Asn398Ser) rs750585484
NM_001032221.6(STXBP1):c.1213A>G (p.Ile405Val) rs1554778428
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1399C>T (p.Arg467Cys)
NM_001032221.6(STXBP1):c.1448A>G (p.Lys483Arg)
NM_001032221.6(STXBP1):c.1478A>C (p.Lys493Thr) rs2131528321
NM_001032221.6(STXBP1):c.1532_1534del (p.Ser511del) rs2131528620
NM_001032221.6(STXBP1):c.1681G>A (p.Gly561Arg) rs369960553
NM_001032221.6(STXBP1):c.1732C>G (p.Leu578Val)
NM_001032221.6(STXBP1):c.174G>T (p.Val58=) rs1057524034
NM_001032221.6(STXBP1):c.1767T>A (p.Asp589Glu) rs974441233
NM_001032221.6(STXBP1):c.1777A>C (p.Ser593Arg) rs2131561521
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys) rs754668616
NM_001032221.6(STXBP1):c.218C>A (p.Ala73Asp) rs1554776686
NM_001032221.6(STXBP1):c.325+4A>C rs2131451091
NM_001032221.6(STXBP1):c.395_406del (p.Glu132_Ile135del) rs2131455052
NM_001032221.6(STXBP1):c.451G>A (p.Asp151Asn) rs2131462425
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)
NM_001032221.6(STXBP1):c.997A>G (p.Lys333Glu) rs796053363
NM_003165.6(STXBP1):c.1754C>A (p.Pro585His) rs1554779134

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