List of variants reported as likely pathogenic for Anterior segment dysgenesis

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.717C>A (p.Ser239Arg)
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)	rs587778874
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	rs752281590
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup)	rs1183655796
NM_001453.3(FOXC1):c.518G>A (p.Arg173His)	rs1762526692
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)	rs878853070
NM_005267.5(GJA8):c.280G>C (p.Gly94Arg)	rs1651887395
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu)	rs1651887603
NM_006744.4(RBP4):c.383A>G (p.Asp128Gly)
NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg)	rs1558489563
NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val)	rs199728419

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