ClinVar Miner

Variants in gene STXBP2 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: 12
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342

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