ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361

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