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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)	rs369937337	0.00002
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)	rs748396645	0.00001
NM_001029883.3(PCARE):c.3668+2T>C	rs1667454188	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.2967del (p.Val990fs)	rs1667476173
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	rs367658438
NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer)	rs749261204
NM_001029883.3(PCARE):c.3108del (p.Arg1037fs)
NM_001029883.3(PCARE):c.938_946dup (p.Arg315_Asn316insThrLysArg)	rs2465278801

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