ClinVar Miner

Variants in gene STXBP1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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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.38-3T>C rs138763389 0.01315
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
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.1548C>T (p.Ser516=) rs145304925 0.00152
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.326-8A>G rs180716154 0.00053
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
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.903-4C>G rs369625158 0.00016
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 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.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349

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