ClinVar Miner

List of variants in gene RPGR reported as pathogenic for Retinitis pigmentosa

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000328.2(RPGR):c.*644del rs1601890980
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) rs1601891967
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) rs1601891936
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter) rs1601940608
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs) rs1555964133
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1572+1G>A rs1601931052
NM_001034853.2(RPGR):c.1572+3A>T rs1555962831
NM_001034853.2(RPGR):c.1754-15_1754-5del rs2067203546
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
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.2123A>G (p.Glu708Gly) rs2067192032
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter) rs1601923813
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs) rs1601923578
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter) rs1601923388
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs) rs2067185063
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
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.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter) rs2067180233
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter) rs1601978991
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.2735del (p.Gly912fs) rs2067159265
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs) rs1601920599
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2797del (p.Glu933fs) rs1346308311
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.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
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.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter) rs1601978823
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs) rs2067117666
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser) rs62638644
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.602A>T (p.His201Leu) rs2067845149
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.897dup (p.Ile300fs) rs1601951704
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter) rs2067562201
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074

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