C3279564[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1388059	NM_002615.7(SERPINF1):c.77del (p.Pro26fs)	SERPINF1 (P26fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1687527	NM_002615.7(SERPINF1):c.1091G>A (p.Trp364Ter)	SERPINF1 (W177* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 1687552	NM_002615.7(SERPINF1):c.1092G>A (p.Trp364Ter)	SERPINF1 (W177* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 6	GLikely pathogenic

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