List of variants in gene OTX2 studied for Retinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_021728.4(OTX2):c.*10G>A	rs171978	0.06420
NM_021728.4(OTX2):c.*340del	rs3215889	0.02501
NM_021728.4(OTX2):c.97+12C>T	rs28757218	0.00889
NM_021728.4(OTX2):c.-119-101C>T	rs534764707	0.00142
NM_021728.4(OTX2):c.*779G>A	rs138197536	0.00041
NM_021728.4(OTX2):c.273+11T>C	rs371958059	0.00021
NM_021728.4(OTX2):c.*316G>A	rs142727455	0.00015
NM_021728.4(OTX2):c.-119-65G>T	rs886050561	0.00010
NM_021728.4(OTX2):c.*966A>G	rs57390094	0.00006
NM_021728.4(OTX2):c.*647A>G	rs886050557	0.00003
NM_021728.4(OTX2):c.270G>T (p.Val90=)	rs747916036	0.00003
NM_021728.4(OTX2):c.53C>A (p.Thr18Asn)	rs1892049835	0.00001
NM_021728.4(OTX2):c.*566GT[3]	rs886050558
NM_021728.4(OTX2):c.*648C>G	rs886050556
NM_021728.4(OTX2):c.*933C>T	rs886050555
NM_021728.4(OTX2):c.-119-24TTTG[2]	rs886050560
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)	rs199799627
NM_021728.4(OTX2):c.455G>A (p.Ser152Asn)	rs768857621

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