ClinVar Miner

List of variants studied for RPGR-related retinopathy by DBGen Ocular Genomics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter) rs1060501181
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) rs2147212880
NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter) rs2147211363
NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer) rs2147199457
NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer) rs2147197604
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter) rs2147196529
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3]) rs772859148
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) rs2147190626
NM_001034853.2(RPGR):c.40G>A (p.Val14Met)
NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter) rs2147261937
NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs) rs2147261738
NM_001034853.2(RPGR):c.779-2A>G rs2147248124
NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter) rs2147247751
NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys) rs2147247612
NM_001034853.2(RPGR):c.934+2T>C rs2147247534

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