List of variants in gene combination SOX2, SOX2-OT reported as benign for anophthalmia/microphthalmia-esophageal atresia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003106.4(SOX2):c.834C>T (p.Leu278=)	rs144530684	0.00166
NM_003106.4(SOX2):c.560A>G (p.Asn187Ser)	rs1394727952	0.00001
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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