ClinVar Miner

Variants in gene STXBP2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) rs188212047 0.00004
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401

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