ClinVar Miner

List of variants in gene STXBP1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 25
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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.663+17C>T rs140247913 0.01395
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
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.903-4C>G rs369625158 0.00016
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=) rs972703931 0.00011
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001032221.6(STXBP1):c.247-10C>G rs376599576 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00005
NM_001032221.6(STXBP1):c.1542C>T (p.Ala514=) rs146226703 0.00004
NM_001032221.6(STXBP1):c.783T>C (p.Asn261=) rs955182405 0.00004
NM_001032221.6(STXBP1):c.1702+9C>T rs1026137028 0.00001
NM_001032221.6(STXBP1):c.855C>T (p.Asp285=) rs143755818 0.00001
NM_001032221.6(STXBP1):c.1216C>A (p.Arg406Ser)
NM_001032221.6(STXBP1):c.1327A>G (p.Met443Val)
NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)
NM_001032221.6(STXBP1):c.1429C>T (p.Arg477Trp)
NM_001032221.6(STXBP1):c.1579G>A (p.Ala527Thr)
NM_001032221.6(STXBP1):c.256T>C (p.Ser86Pro)
NM_001032221.6(STXBP1):c.38-30CT[7] rs755475986
NM_001032221.6(STXBP1):c.826G>T (p.Val276Leu)

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