ClinVar Miner

List of variants studied for retinitis pigmentosa 54 by Ocular Genomics Institute, Massachusetts Eye and Ear

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
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

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