ClinVar Miner

List of variants in gene STXBP1 reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 67
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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.1356C>T (p.Thr452=) rs35099393 0.00894
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.247-8A>G rs199827018 0.00325
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.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.170-48G>A rs182862523 0.00152
NM_001032221.6(STXBP1):c.902+15C>T rs199534789 0.00109
NM_001032221.6(STXBP1):c.1359+15C>T rs374034782 0.00106
NM_001032221.6(STXBP1):c.1702+11G>A rs201977618 0.00092
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_001032221.6(STXBP1):c.169+35G>C rs182062372 0.00058
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
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.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.902+9C>A rs200737004 0.00016
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 0.00016
NM_001032221.6(STXBP1):c.902+34G>A rs191638129 0.00014
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001032221.6(STXBP1):c.247-23C>T rs762436097 0.00012
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001032221.6(STXBP1):c.1548-15C>A rs772320382 0.00007
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.246+15A>G rs369881520 0.00005
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00005
NM_001032221.6(STXBP1):c.1250-19G>A rs370856785 0.00004
NM_001032221.6(STXBP1):c.430-9C>T rs748770943 0.00004
NM_001032221.6(STXBP1):c.1250-7C>T rs1323549123 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.1249+9G>A rs372869649
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>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.38-30CT[7] rs755475986
NM_001032221.6(STXBP1):c.664-326C>T rs73599683
NM_001032221.6(STXBP1):c.681C>G (p.Arg227=) rs553892771

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