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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter)	rs1714865486
NM_003106.4(SOX2):c.758del (p.Pro253fs)
NM_003106.4(SOX2):c.775_778del (p.Ser259fs)

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