"3billion"[submitter] AND "DDB2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333415	NM_000107.3(DDB2):c.985C>T (p.His329Tyr)	DDB2 (H329Y)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 1333388	NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter)	DDB2 (S207* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group E	GPathogenic
Select item 2572600	NM_000107.3(DDB2):c.1234+1del	DDB2	Deletion (splice donor variant)	Xeroderma pigmentosum, group E	GUncertain significance

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