"OMIM"[submitter] AND "AMBN"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183689	NM_016519.6(AMBN):c.294+140_531+479del	AMBN	Deletion (splice acceptor variant +1 more)	Amelogenesis imperfecta type 1F	GPathogenic
Select item 372171	NM_016519.6(AMBN):c.532-1G>C	AMBN	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1F	GPathogenic