ClinVar Miner

List of variants in gene PCARE reported as likely pathogenic for Retinitis pigmentosa 54

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter) rs748396645 0.00001
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter) rs2148416171
NM_001029883.3(PCARE):c.1663del (p.Val555fs) rs2148416150
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter) rs1238711555
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) rs1667504255
NM_001029883.3(PCARE):c.2415del (p.Pro807fs) rs1412522034
NM_001029883.3(PCARE):c.2424del (p.Pro809fs) rs2148415628
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer)
NM_001029883.3(PCARE):c.3668+2T>C rs1667454188
NM_001029883.3(PCARE):c.938_946dup (p.Arg315_Asn316insThrLysArg)

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