ClinVar Miner

List of variants in gene RPGR reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.620-41T>C rs45486397 0.03373
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp) rs150960964 0.00656
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr) rs145289281 0.00087
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.1399C>A (p.Gln467Lys) rs774321455 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.1059+6G>A rs377731326 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.1754-10C>G rs368767915 0.00018
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile) rs768274240 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.1176G>C (p.Pro392=) rs149742786 0.00014
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.1245+6A>G rs886038281 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_001034853.2(RPGR):c.155-10C>T rs757403373 0.00003
NM_001034853.2(RPGR):c.1200T>C (p.Asn400=) rs768625051 0.00001
NM_000328.3(RPGR):c.*194A>G
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.1084G>A (p.Val362Ile) rs866718135
NM_001034853.2(RPGR):c.1095T>G (p.Ala365=)
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.1449G>A (p.Glu483=)
NM_001034853.2(RPGR):c.154+43A>G
NM_001034853.2(RPGR):c.155-13del rs886038282
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.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
NM_001034853.2(RPGR):c.248-15T>C
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5]) rs751710678
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=) rs750364695
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.2691GGA[1] (p.Glu899del) rs745428229
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del) rs751721873
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
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.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.2976_2990del (p.989EGEEE[1]) rs761365864
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3348A>G (p.Lys1116=)
NM_001034853.2(RPGR):c.768G>A (p.Val256=)
NM_001034853.2(RPGR):c.939C>T (p.Ile313=)
NM_001034853.2(RPGR):c.972C>T (p.His324=)

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