ClinVar Miner

List of variants in gene OTX2 studied for Syndromic microphthalmia type 5; Pituitary hormone deficiency, combined, 6

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_021728.4(OTX2):c.459C>T (p.Ser153=)	rs34537598	0.00961
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)	rs199799627
NM_021728.4(OTX2):c.439G>A (p.Val147Ile)
NM_021728.4(OTX2):c.706_725del (p.Thr236fs)

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