ClinVar Miner

List of variants in gene RPGR reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
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.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_001034853.2(RPGR):c.1721C>T (p.Thr574Met) rs202013664 0.00027
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=) rs138347728 0.00015
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys) rs62638645 0.00005
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.2543del (p.Glu848fs) rs1233849070 0.00002
NM_000328.3(RPGR):c.2304G>A (p.Pro768=) rs781426804 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.649C>T (p.Pro217Ser) rs1411541161 0.00001
NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys) rs1555958965
NM_001034853.2(RPGR):c.1040dup (p.Leu347fs) rs2147238438
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter) rs772201779
NM_001034853.2(RPGR):c.1245+1G>A rs2147232242
NM_001034853.2(RPGR):c.1246-2A>C rs2067410562
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1754-104dup
NM_001034853.2(RPGR):c.178G>A (p.Gly60Ser) rs2147290553
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2331G>A (p.Lys777=)
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs) rs2067183162
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter) rs1601922877
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter) rs1555961787
NM_001034853.2(RPGR):c.2426A>T (p.Glu809Val)
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs) rs2147197209
NM_001034853.2(RPGR):c.2511GGA[1] (p.Glu839del)
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter) rs1601922074
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs) rs2067172385
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
NM_001034853.2(RPGR):c.2685A>G (p.Gly895=)
NM_001034853.2(RPGR):c.2706G>A (p.Gly902=)
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del) rs751721873
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del) rs2067156760
NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter) rs1057519236
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.2847_2852del (p.Glu951_Glu952del)
NM_001034853.2(RPGR):c.2856A>T (p.Glu952Asp)
NM_001034853.2(RPGR):c.2864G>A (p.Trp955Ter) rs1555961491
NM_001034853.2(RPGR):c.2887del (p.Glu963fs) rs1064797364
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2966del (p.Glu989fs) rs2067134850
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1]) rs761365864
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs) rs2067128124
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs) rs1601918140
NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs) rs1555961350
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.311-4G>A
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3285G>A (p.Val1095=) rs1601917276
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg) rs1569234937
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.467C>T (p.Thr156Ile) rs751512713
NM_001034853.2(RPGR):c.588T>G (p.Ser196=)
NM_001034853.2(RPGR):c.657T>C (p.Asn219=)
NM_001034853.2(RPGR):c.799G>C (p.Gly267Arg) rs2147248035
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001034853.2(RPGR):c.935-2A>G rs2067498092
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594

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