"Mendelics"[submitter] AND "FOXC1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183251	NM_001453.3(FOXC1):c.-429C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1685825	NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)	FOXC1 (N133fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 183249	NM_001453.3(FOXC1):c.*734A>T	FOXC1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance

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