ClinVar Miner

List of variants studied for RPGR-related retinopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1506+4del rs2067276668
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs) rs2067185505
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) rs2067111489
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr) rs2067875526

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