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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	rs72549387	0.00022
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	rs587778873
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
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)
NM_004491.5(ARHGAP35):c.4444del (p.Gln1482fs)

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