ClinVar Miner

List of variants reported as uncertain significance 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: 7
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) rs2147212880
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.40G>A (p.Val14Met)
NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys) rs2147247612

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