List of variants in gene PCARE reported as pathogenic for Retinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs)	rs1196801124	0.00001
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)	rs748396645	0.00001
NM_001029883.3(PCARE):c.1525del (p.Thr509fs)	rs753619551
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs)	rs527236056
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	rs367658438
NM_001029883.3(PCARE):c.3358_3359del (p.His1120fs)
NM_001029883.3(PCARE):c.3526C>T (p.Gln1176Ter)
NM_001029883.3(PCARE):c.397G>T (p.Glu133Ter)
NM_001029883.3(PCARE):c.568del (p.Tyr190fs)
NM_001029883.3(PCARE):c.570T>G (p.Tyr190Ter)
NM_001029883.3(PCARE):c.571_572insAGGCTTACACCAGCAGGCT (p.Leu191fs)
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)	rs750987123
NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)	rs866543181
NM_001029883.3(PCARE):c.824dup (p.Ser276fs)

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