List of variants in gene combination SOX2, SOX2-OT reported as likely benign 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_003106.4(SOX2):c.561T>C (p.Asn187=)	rs147606682	0.00028
NM_003106.4(SOX2):c.651G>T (p.Met217Ile)	rs199887134	0.00021
NM_003106.4(SOX2):c.869G>C (p.Ser290Thr)	rs779686992	0.00014
NM_003106.4(SOX2):c.840C>G (p.Gly280=)	rs767686608	0.00006
NM_003106.4(SOX2):c.555C>A (p.Gly185=)
NM_003106.4(SOX2):c.573A>G (p.Ala191=)
NM_003106.4(SOX2):c.828G>C (p.Met276Ile)
NM_003106.4(SOX2):c.837C>T (p.Pro279=)
NM_003106.4(SOX2):c.843C>T (p.Ala281=)
NM_003106.4(SOX2):c.852G>A (p.Pro284=)
NM_003106.4(SOX2):c.861C>T (p.Ala287=)	rs199971071
NM_003106.4(SOX2):c.890A>G (p.His297Arg)	rs1338979266
NM_003106.4(SOX2):c.912C>T (p.Pro304=)
NM_003106.4(SOX2):c.933A>T (p.Thr311=)
NM_003106.4(SOX2):c.936G>A (p.Leu312=)

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