List of variants in gene combination PET100, STXBP2 reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)	rs570620177	0.00006
NM_001171155.2(PET100):c.178C>T (p.Arg60Trp)	rs757388275	0.00001
NM_001171155.2(PET100):c.200G>A (p.Arg67His)	rs556380451	0.00001
NM_001171155.2(PET100):c.184G>T (p.Glu62Ter)	rs977219926

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