ClinVar Miner

List of variants in gene CRX reported as likely pathogenic for Retinal dystrophy

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.24dup (p.Pro9fs) rs62636512
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.586del (p.Ala196fs) rs1968169004
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) rs1968170098
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247

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