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: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 14

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1110+2T>G
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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