List of variants reported as benign for Anophthalmia/microphthalmia-esophageal atresia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003106.4(SOX2):c.453G>A (p.Ala151=)	rs74480245	0.00491
NM_003106.4(SOX2):c.834C>T (p.Leu278=)	rs144530684	0.00166
NM_003106.4(SOX2):c.231C>A (p.Ala77=)	rs201190086	0.00011
NM_003106.4(SOX2):c.560A>G (p.Asn187Ser)	rs1394727952	0.00001
NM_003106.4(SOX2):c.348C>A (p.Thr116=)
NM_003106.4(SOX2):c.474C>G (p.Asp158Glu)
NM_003106.4(SOX2):c.694A>G (p.Thr232Ala)
NM_003106.4(SOX2):c.700G>A (p.Gly234Ser)
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro)	rs760688357
NM_003106.4(SOX2):c.861C>G (p.Ala287=)	rs199971071
NM_003106.4(SOX2):c.909G>C (p.Val303=)

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