List of variants in gene PAX6 reported as pathogenic for Irido-corneo-trabecular dysgenesis

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)	rs587778874
NM_001368894.2(PAX6):c.1A>G (p.Met1Val)	rs1131692284
NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)	rs1954548195
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)	rs121907913
NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)	rs1950628459

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