List of variants reported as likely pathogenic for anophthalmia/microphthalmia-esophageal atresia syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003106.4(SOX2):c.142T>G (p.Phe48Val)
NM_003106.4(SOX2):c.143T>C (p.Phe48Ser)	rs1714843059
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter)	rs1208628241
NM_003106.4(SOX2):c.241del (p.Leu81fs)
NM_003106.4(SOX2):c.287G>C (p.Arg96Pro)	rs1714847764
NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter)	rs2108522196
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala)	rs121918652
NM_003106.4(SOX2):c.544C>T (p.Gln182Ter)
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter)	rs1714865486
NM_003106.4(SOX2):c.70_89dup (p.Gly31fs)
NM_003106.4(SOX2):c.758del (p.Pro253fs)
NM_003106.4(SOX2):c.775_778del (p.Ser259fs)

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