ClinVar Miner

List of variants in gene CRX reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063 0.00001
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390

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