ClinVar Miner

List of variants in gene RPGR reported as uncertain significance for Retinal dystrophy

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg) rs771616566 0.00002
NM_001034853.2(RPGR):c.1754-9G>A rs762495217 0.00001
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly) rs1364555173 0.00001
NM_000328.3(RPGR):c.2057C>T (p.Thr686Ile)
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
NM_000328.3(RPGR):c.2366A>T (p.Asp789Val)
NM_001034853.2(RPGR):c.1125T>G (p.Ile375Met)
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.1572+1del rs878853373
NM_001034853.2(RPGR):c.1594C>T (p.Leu532=)
NM_001034853.2(RPGR):c.1612C>G (p.Leu538Val)
NM_001034853.2(RPGR):c.1720A>T (p.Thr574Ser)
NM_001034853.2(RPGR):c.1726A>T (p.Ile576Phe)
NM_001034853.2(RPGR):c.1728_1729insATGACGCAT (p.Ile576_Glu577insMetThrHis)
NM_001034853.2(RPGR):c.1753G>A (p.Glu585Lys) rs2067215010
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
NM_001034853.2(RPGR):c.1983A>C (p.Glu661Asp)
NM_001034853.2(RPGR):c.198G>C (p.Gln66His) rs2067975683
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1]) rs2067975228
NM_001034853.2(RPGR):c.203G>T (p.Gly68Val) rs2067975335
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del) rs1287687440
NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)
NM_001034853.2(RPGR):c.2442A>G (p.Val814=)
NM_001034853.2(RPGR):c.247+5G>A rs2067974156
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp) rs763102799
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val) rs1234506102
NM_001034853.2(RPGR):c.296C>T (p.Thr99Ile)
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.310+7T>G rs2067929126
NM_001034853.2(RPGR):c.3202A>T (p.Lys1068Ter)
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.362T>G (p.Leu121Arg) rs2067878147
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.443G>A (p.Gly148Glu) rs2067875982
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.484_486del (p.Phe162del) rs281865297
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg) rs2067847091
NM_001034853.2(RPGR):c.764C>T (p.Thr255Ile)
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001034853.2(RPGR):c.972C>T (p.His324=)

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