"3billion"[submitter] AND "MN1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333278	NM_002430.3(MN1):c.3680G>A (p.Trp1227Ter)	MN1 (W1227*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GLikely pathogenic
Select item 2572388	NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)	MN1 (K455*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GLikely pathogenic
Select item 2572438	NM_002430.3(MN1):c.487G>T (p.Glu163Ter)	MN1 (E163*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GLikely pathogenic

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