ClinVar Miner

List of variants in gene STXBP1 reported as benign for not provided

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.578+145C>T rs7036307 0.98864
NM_001032221.6(STXBP1):c.795-243A>G rs2241167 0.43293
NM_001032221.6(STXBP1):c.246+83G>T rs2287116 0.21159
NM_001032221.6(STXBP1):c.1702+303A>G rs3780659 0.14307
NM_001032221.6(STXBP1):c.663+207T>A rs13297270 0.14307
NM_001032221.6(STXBP1):c.326-305A>G rs4836573 0.12932
NM_001032221.6(STXBP1):c.1359+320T>C rs57559410 0.06826
NM_001032221.6(STXBP1):c.247-181G>A rs17849177 0.06079
NM_001032221.6(STXBP1):c.579-112A>G rs17849179 0.06013
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_001032221.6(STXBP1):c.88-53C>T rs57153442 0.05151
NM_001032221.6(STXBP1):c.1249+222G>A rs12115218 0.04832
NM_001032221.6(STXBP1):c.902+138C>T rs7862127 0.03625
NM_001032221.6(STXBP1):c.1547+169C>G rs116319255 0.02993
NM_001032221.6(STXBP1):c.664-200C>T rs111741154 0.01951
NM_001032221.6(STXBP1):c.579-37C>G rs113138293 0.01843
NM_001032221.6(STXBP1):c.1461+80C>A rs73601663 0.01551
NM_001032221.6(STXBP1):c.663+17C>T rs140247913 0.01395
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_001032221.6(STXBP1):c.1702+39C>T rs17849185 0.00536
NM_001032221.6(STXBP1):c.795-38A>G rs147069788 0.00329
NM_001032221.6(STXBP1):c.795-41T>C rs186338327 0.00326
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.794+42C>T rs17849182 0.00201
NM_001032221.6(STXBP1):c.170-48G>A rs182862523 0.00152
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001032221.6(STXBP1):c.169+35G>C rs182062372 0.00058
NM_001032221.6(STXBP1):c.794+21C>T rs184810503 0.00052
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_001032221.6(STXBP1):c.663+42C>T rs375814365 0.00039
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_001032221.6(STXBP1):c.902+34G>A rs191638129 0.00014
NM_001032221.6(STXBP1):c.247-23C>T rs762436097 0.00012
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.1250-7C>T rs1323549123 0.00001
NM_001032221.6(STXBP1):c.1548-21_1548-20del rs145978705
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.169+141G>A
NM_001032221.6(STXBP1):c.169+141G>C rs17849175
NM_001032221.6(STXBP1):c.1702+1654A>G rs4836575
NM_001032221.6(STXBP1):c.1702+31C>T rs200592361
NM_001032221.6(STXBP1):c.326-95dup rs372510099
NM_001032221.6(STXBP1):c.664-326C>T rs73599683

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