"3billion"[submitter] AND "SERPINB7"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157566	NM_003784.4(SERPINB7):c.522dup (p.Val175fs)	SERPINB7 (V175fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1333198	NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs)	SERPINB7 (S200fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 102446	NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)	SERPINB7 (R266* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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