List of variants in gene OTX2 reported as likely pathogenic for syndromic microphthalmia type 5

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_021728.4(OTX2):c.150G>C (p.Arg50Ser)
NM_021728.4(OTX2):c.278G>T (p.Trp93Leu)	rs2139529394
NM_021728.4(OTX2):c.706_725del (p.Thr236fs)

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