ClinVar Miner

List of variants studied for PCARE-related retinopathy by 3billion

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer) rs749261204
NM_001029883.3(PCARE):c.3358_3359del (p.His1120fs) rs1572825920
NM_001029883.3(PCARE):c.551A>G (p.His184Arg) rs774515390
NM_001029883.3(PCARE):c.878T>C (p.Leu293Pro)

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