ClinVar (all) for Orgtrack (Select 505883) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252942	NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter)	SERPING1 (S318*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 252941	NM_000062.3(SERPING1):c.550+745_685+308del	SERPING1	Deletion (splice acceptor variant +1 more)	Hereditary angioedema type 1	GPathogenic
Select item 252940	NM_000062.3(SERPING1):c.587T>A (p.Ile196Asn)	SERPING1 (I196N)	Single nucleotide variant (missense variant)	Angioedema	GLikely pathogenic

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