List of variants studied for anophthalmia/microphthalmia-esophageal atresia syndrome by OMIM

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del
NM_003106.4(SOX2):c.138T>G (p.Asn46Lys)	rs104893806
NM_003106.4(SOX2):c.143_144delinsAA (p.Phe48Ter)	rs398122915
NM_003106.4(SOX2):c.163C>T (p.Gln55Ter)	rs104893804
NM_003106.4(SOX2):c.221G>C (p.Arg74Pro)	rs104893805
NM_003106.4(SOX2):c.245T>A (p.Leu82Ter)	rs387906688
NM_003106.4(SOX2):c.248C>A (p.Ser83Ter)	rs104893801
NM_003106.4(SOX2):c.277G>T (p.Glu93Ter)	rs104893800
NM_003106.4(SOX2):c.290T>C (p.Leu97Pro)	rs104893802
NM_003106.4(SOX2):c.463C>T (p.Gln155Ter)	rs104893803
NM_003106.4(SOX2):c.529C>T (p.Gln177Ter)	rs104893799
NM_003106.4(SOX2):c.551del (p.Pro184fs)	rs587776776
NM_003106.4(SOX2):c.58_59dup (p.Gly21fs)	rs398122803
NM_003106.4(SOX2):c.59dup (p.Gly21fs)	rs398122803
NM_003106.4(SOX2):c.70_86del (p.Asn24fs)	rs1553862927
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)	rs398123693
NM_003106.4(SOX2):c.837del (p.Gly280fs)	rs398122916

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