ClinVar Miner

List of variants in gene RPGR reported as likely benign for not provided

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Gene type:
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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=) rs12687163 0.12023
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.247+235C>T rs73192571 0.02290
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_001034853.2(RPGR):c.934+92G>C rs41312159 0.02026
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001034853.2(RPGR):c.*72A>G rs139467624 0.01996
NM_001034853.2(RPGR):c.1415-240G>A rs150760601 0.01608
NM_001034853.2(RPGR):c.1506+140A>G rs188058017 0.01259
NM_001034853.2(RPGR):c.1414+66T>C rs149312408 0.01204
NM_001034853.2(RPGR):c.935-125A>G rs145168133 0.01186
NM_000328.3(RPGR):c.2242-8T>C rs112368541 0.01109
NM_001034853.2(RPGR):c.2569A>G (p.Lys857Glu) rs1250133030 0.00981
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys) rs147388235 0.00850
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001034853.2(RPGR):c.29-99A>G rs184818920 0.00779
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp) rs150960964 0.00656
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=) rs766376194 0.00481
NM_001034853.2(RPGR):c.310+132A>G rs143415085 0.00421
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590 0.00361
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_001034853.2(RPGR):c.2898G>A (p.Gly966=) rs1064797363 0.00073
NM_001034853.2(RPGR):c.2895G>A (p.Glu965=) rs762437958 0.00056
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln) rs150549982 0.00046
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00045
NM_001034853.2(RPGR):c.1414+5C>T rs367627674 0.00039
NM_001034853.2(RPGR):c.2922G>A (p.Gly974=) rs769179127 0.00036
NM_001034853.2(RPGR):c.1059+6G>A rs377731326 0.00035
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001034853.2(RPGR):c.153C>T (p.Thr51=) rs201242851 0.00033
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203 0.00032
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met) rs202013664 0.00027
NM_001034853.2(RPGR):c.1754-10C>G rs368767915 0.00018
NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu) rs749762268 0.00016
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=) rs138347728 0.00015
NM_001034853.2(RPGR):c.310+10T>C rs373028441 0.00015
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=) rs145089607 0.00012
NM_001034853.2(RPGR):c.36T>G (p.Gly12=) rs769123303 0.00010
NM_001034853.2(RPGR):c.1098T>C (p.Ala366=) rs369391462 0.00008
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala) rs769641256 0.00003
NM_001034853.2(RPGR):c.1356G>A (p.Glu452=) rs763638295 0.00003
NM_001034853.2(RPGR):c.155-10C>T rs757403373 0.00003
NM_000328.3(RPGR):c.2304G>A (p.Pro768=) rs781426804 0.00001
NM_001034853.2(RPGR):c.649C>T (p.Pro217Ser) rs1411541161 0.00001
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) rs771791722
NM_000328.3(RPGR):c.2241+5G>A
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733
NM_000328.3(RPGR):c.2442A>T (p.Ile814=)
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
NM_001034853.2(RPGR):c.1414+1170G>A
NM_001034853.2(RPGR):c.1414+1269T>C
NM_001034853.2(RPGR):c.1414+9T>C
NM_001034853.2(RPGR):c.1415-17C>G
NM_001034853.2(RPGR):c.1507-123TA[10] rs1168785516
NM_001034853.2(RPGR):c.154+43A>G
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.1754-104dup
NM_001034853.2(RPGR):c.1754-10C>T
NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
NM_001034853.2(RPGR):c.2331G>A (p.Lys777=)
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del) rs201730068
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del) rs760332126
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
NM_001034853.2(RPGR):c.2606_2632dup (p.860EEGEEGEGE[3]) rs769216492
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del) rs199663434
NM_001034853.2(RPGR):c.2685A>G (p.Gly895=)
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001034853.2(RPGR):c.2706G>A (p.Gly902=)
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del) rs751721873
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
NM_001034853.2(RPGR):c.28+233A>C rs140026681
NM_001034853.2(RPGR):c.28+280del rs1232638719
NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del) rs1238945219
NM_001034853.2(RPGR):c.2820_2840del (p.Asp943_Glu949del)
NM_001034853.2(RPGR):c.2829T>G (p.Asp943Glu) rs201655057
NM_001034853.2(RPGR):c.2847_2852del (p.Glu951_Glu952del)
NM_001034853.2(RPGR):c.2856A>T (p.Glu952Asp)
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
NM_001034853.2(RPGR):c.2901_2903del (p.Glu969del) rs753744103
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
NM_001034853.2(RPGR):c.2943G>C (p.Gly981=)
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1]) rs761365864
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del) rs200955614
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1]) rs201134185
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1]) rs774012136
NM_001034853.2(RPGR):c.311-4G>A
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.3285G>A (p.Val1095=) rs1601917276
NM_001034853.2(RPGR):c.3348A>G (p.Lys1116=)
NM_001034853.2(RPGR):c.467C>T (p.Thr156Ile) rs751512713
NM_001034853.2(RPGR):c.588T>G (p.Ser196=)
NM_001034853.2(RPGR):c.768G>A (p.Val256=)
NM_001034853.2(RPGR):c.972C>T (p.His324=)

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