List of variants reported as pathogenic for Fuchs' endothelial dystrophy by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)	rs80194531	0.01629
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)	rs118020901	0.00680
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)	rs185919705	0.00200
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)	rs181958589	0.00124
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)	rs267607066	0.00003
NG_011716.2:g.54765TGC[51_?]
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)	rs267607065
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu)	rs267607064
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs)	rs1600618680
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
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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