ClinVar Miner

List of variants in gene CRX reported by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 12
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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.191del (p.Pro64fs) rs1968117526
NM_000554.6(CRX):c.450del (p.Gly151fs) rs1968165665
NM_000554.6(CRX):c.458del (p.Pro153fs) rs1968165787
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) rs1968166379
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.549del (p.Pro184fs) rs1968167603
NM_000554.6(CRX):c.570del (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) rs373497612
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000554.6(CRX):c.816del (p.Thr273fs) rs1968173864

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