List of variants reported as pathogenic for corneal disorder by Genetics Department, University Hospital of Toulouse

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_012293.3(PXDN):c.1A>G (p.Met1Val)	rs1387582423	0.00001
NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)	rs1954548195
NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)	rs1950628459
NM_012293.3(PXDN):c.2276C>T (p.Ser759Leu)	rs200731840
NM_012293.3(PXDN):c.2569del (p.Cys857fs)	rs1408683917
NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer)	rs1572110097
NM_012293.3(PXDN):c.693_697dup (p.Val233fs)	rs1572153816

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