C5393908[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526154	NM_003470.3(USP7):c.1157T>A (p.Leu386Ter)	USP7 (L287* +3 more)	Single nucleotide variant (nonsense +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 1320052	NM_003470.3(USP7):c.862_863del (p.Leu288fs)	USP7 (L189fs +3 more)	Deletion (frameshift variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic