ClinVar Miner

List of variants in gene RPGR reported as pathogenic by Blueprint Genetics

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Gene type:
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001034853.2(RPGR):c.101del (p.Asn34fs) rs281865295
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter) rs2067406342
NM_001034853.2(RPGR):c.1375_1376del (p.Val459fs) rs2067404808
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.1685_1686del (p.His562fs) rs2067217662
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter) rs2067196800
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter) rs2067191335
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs) rs2067188031
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs) rs1475590979
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs) rs2067187127
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2340del (p.Ala781fs) rs2067185564
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter) rs2067184023
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
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.2412_2413del (p.Glu806fs) rs2067182636
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter) rs2067177281
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) rs2067176379
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs) rs1373833359
NM_001034853.2(RPGR):c.2548del (p.Glu850fs) rs2067174697
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) rs2067172824
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs) rs2067164096
NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter) rs2067163605
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) rs2067160273
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.2867del (p.Glu956fs) rs2067146007
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs) rs2067144007
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter) rs2067140471
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs) rs2067136586
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs) rs2067135227
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.2966del (p.Glu989fs) rs2067134850
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) rs2067127718
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter) rs866524368
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs) rs886041376
NM_001034853.2(RPGR):c.372del (p.Glu125fs) rs62638642
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter) rs62638648
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter) rs2067700774
NM_001034853.2(RPGR):c.934+1G>A rs62640592
NM_001034853.2(RPGR):c.934+1G>T rs62640592

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