List of variants in gene OTX2 reported as 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: 20

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HGVS	dbSNP	gnomAD frequency
NM_021728.4(OTX2):c.245_260del (p.Lys82fs)	rs1566624472
NM_021728.4(OTX2):c.259G>A (p.Glu87Lys)	rs786205224
NM_021728.4(OTX2):c.289C>G (p.Arg97Gly)	rs104894464
NM_021728.4(OTX2):c.289C>T (p.Arg97Ter)	rs104894464
NM_021728.4(OTX2):c.294A>T (p.Arg98Ser)	rs1566623392
NM_021728.4(OTX2):c.316del (p.Gln106fs)	rs786205884
NM_021728.4(OTX2):c.428_429dup (p.Ser144fs)	rs1566623121
NM_021728.4(OTX2):c.437C>G (p.Ser146Ter)	rs786205879
NM_021728.4(OTX2):c.487_488dup (p.Ser164fs)	rs786205873
NM_021728.4(OTX2):c.561T>A (p.Tyr187Ter)	rs104894465
NM_021728.4(OTX2):c.586G>T (p.Gly196Ter)	rs397514463
NM_021728.4(OTX2):c.591T>G (p.Tyr197Ter)
NM_021728.4(OTX2):c.634_640del (p.Tyr212fs)	rs2139528313
NM_021728.4(OTX2):c.673del (p.Ala225fs)	rs1566622571
NM_021728.4(OTX2):c.728dup (p.Ala244fs)	rs2139527991
NM_021728.4(OTX2):c.749del (p.Gly250fs)	rs1594952111
NM_021728.4(OTX2):c.781_784del (p.Thr261fs)	rs1555350156
NM_021728.4(OTX2):c.811del (p.Thr271fs)	rs1594952007
NM_021728.4(OTX2):c.81del (p.Ser28fs)	rs786205874
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs)	rs1555350223

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