List of variants in gene combination SOX2, SOX2-OT reported as pathogenic 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: 12

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1
NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer)	rs1714864777
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter)	rs1714865486
NM_003106.4(SOX2):c.621C>A (p.Tyr207Ter)
NM_003106.4(SOX2):c.764_767dup (p.Ser257fs)	rs2108523389
NM_003106.4(SOX2):c.828del (p.Met276fs)	rs1714875635
NM_003106.4(SOX2):c.837del (p.Gly280fs)	rs398122916
NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs)	rs1560264973
NM_003106.4(SOX2):c.921_930del (p.Ile308fs)	rs1714882477
NM_003106.4(SOX2):c.935_936del (p.Leu312fs)
NM_003106.4(SOX2):c.941del (p.Leu314fs)	rs1714883776
NM_003106.4(SOX2):c.943_944del (p.Ser315fs)	rs1714883683

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