ClinVar Miner

List of variants studied for congenital primary aphakia by OMIM

Included ClinVar conditions (4):

Anterior segment dysgenesis 1; Congenital primary aphakia; Familial thoracic aortic aneurysm and aortic dissection
Congenital primary aphakia
Congenital primary aphakia; Anterior segment dysgenesis
Congenital primary aphakia; Cataract 34 multiple types; Aortic aneurysm, familial thoracic 11, susceptibility to

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)	rs80358194	0.00016
NM_012186.3(FOXE3):c.942dup (p.Leu315fs)	rs1570406175
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu)	rs387906793

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