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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572439	NM_000384.3(APOB):c.3127A>T (p.Lys1043Ter)	APOB (K1043*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1	GLikely pathogenic
Select item 1705571	NM_000384.3(APOB):c.904+2T>C	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1	GPathogenic