ClinVar Miner

List of variants in gene RPGR reported as uncertain significance for not provided

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu) rs202156474 0.00037
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met) rs202154504 0.00013
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001034853.2(RPGR):c.36T>G (p.Gly12=) rs769123303 0.00010
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val) rs757714144 0.00005
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met) rs148334278 0.00005
NM_001034853.2(RPGR):c.373G>A (p.Glu125Lys) rs769175863 0.00005
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys) rs62638645 0.00005
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=) rs759743089 0.00002
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) rs794727019 0.00001
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn) rs1159969109 0.00001
NM_001034853.2(RPGR):c.248-7T>C rs772049733 0.00001
NM_001034853.2(RPGR):c.619+8A>G rs1230328335 0.00001
NM_001034853.2(RPGR):c.968G>A (p.Arg323His) rs2067497181 0.00001
NM_000328.3(RPGR):c.*177A>G
NM_000328.3(RPGR):c.*207A>G
NM_000328.3(RPGR):c.2074G>C (p.Ala692Pro)
NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys) rs1555958965
NM_001034853.2(RPGR):c.1052T>A (p.Val351Asp)
NM_001034853.2(RPGR):c.1066T>C (p.Cys356Arg) rs794726978
NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) rs2147212880
NM_001034853.2(RPGR):c.1506+3A>G rs2147212763
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
NM_001034853.2(RPGR):c.154+5G>A
NM_001034853.2(RPGR):c.1558G>A (p.Val520Ile)
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
NM_001034853.2(RPGR):c.1651_1659del (p.Ser551_Met553del)
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg) rs2067975926
NM_001034853.2(RPGR):c.197A>T (p.Gln66Leu)
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del) rs1287687440
NM_001034853.2(RPGR):c.2378A>G (p.Gln793Arg)
NM_001034853.2(RPGR):c.2426A>T (p.Glu809Val)
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del) rs745480662
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr) rs2067974263
NM_001034853.2(RPGR):c.2511GGA[1] (p.Glu839del)
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del) rs771584745
NM_001034853.2(RPGR):c.2633G>T (p.Gly878Val) rs1218098015
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3]) rs756520886
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3]) rs757402645
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del) rs2067156760
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
NM_001034853.2(RPGR):c.2984_2985insAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGG (p.Glu996_Glu997insGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3046G>A (p.Glu1016Lys)
NM_001034853.2(RPGR):c.308C>A (p.Thr103Lys)
NM_001034853.2(RPGR):c.3143A>G (p.Lys1048Arg) rs2147190857
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.3317A>C (p.Lys1106Thr)
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg) rs1569234937
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
NM_001034853.2(RPGR):c.358G>A (p.Gly120Arg)
NM_001034853.2(RPGR):c.359G>A (p.Gly120Glu)
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg) rs2067847091
NM_001034853.2(RPGR):c.565G>A (p.Gly189Arg) rs1057523984
NM_001034853.2(RPGR):c.590G>A (p.Cys197Tyr)
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile) rs1555967757
NM_001034853.2(RPGR):c.657T>C (p.Asn219=)
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp) rs1555966699
NM_001034853.2(RPGR):c.758A>G (p.Glu253Gly)
NM_001034853.2(RPGR):c.777G>A (p.Thr259=) rs794727844

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