List of variants in gene COL8A2 reported as pathogenic for Fuchs' endothelial dystrophy

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)	rs80358192
NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)	rs80358191
NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)	rs727504229

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