ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1015dup (p.Ile339fs)
NM_001034853.2(RPGR):c.1040dup (p.Leu347fs) rs2147238438
NM_001034853.2(RPGR):c.1159del (p.Val387fs)
NM_001034853.2(RPGR):c.119_122del (p.Leu40fs)
NM_001034853.2(RPGR):c.1245+1G>A rs2147232242
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg) rs62638629
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.1374dup (p.Val459fs)
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1519del (p.Ser507fs)
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
NM_001034853.2(RPGR):c.1573-12A>G rs2067221066
NM_001034853.2(RPGR):c.159_160insTAA (p.Asn54Ter)
NM_001034853.2(RPGR):c.1651dup (p.Ser551fs)
NM_001034853.2(RPGR):c.178G>A (p.Gly60Ser) rs2147290553
NM_001034853.2(RPGR):c.1819_1820dup (p.Ala608fs)
NM_001034853.2(RPGR):c.1843del (p.Val615fs)
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.1938_1939insAGAGG (p.Ala647fs)
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) rs2147290510
NM_001034853.2(RPGR):c.1983_1995del (p.Gly662fs)
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2070del (p.Glu691fs) rs1601924055
NM_001034853.2(RPGR):c.2083del (p.Glu695fs)
NM_001034853.2(RPGR):c.2159_2162del (p.Gln720fs)
NM_001034853.2(RPGR):c.2195del (p.Glu732fs)
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001034853.2(RPGR):c.2221G>T (p.Glu741Ter)
NM_001034853.2(RPGR):c.2240_2253del (p.Glu747fs)
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
NM_001034853.2(RPGR):c.2336_2345dup (p.Glu784fs)
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
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.2424_2427del (p.Glu809fs)
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
NM_001034853.2(RPGR):c.246dup (p.Ala83fs)
NM_001034853.2(RPGR):c.2527G>T (p.Glu843Ter)
NM_001034853.2(RPGR):c.2541_2542del (p.Glu848fs)
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2569A>T (p.Lys857Ter)
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2625del (p.Glu877fs)
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter) rs1569236609
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
NM_001034853.2(RPGR):c.2725G>T (p.Glu909Ter)
NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter) rs1057519236
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs) rs2147194427
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
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.2911G>T (p.Glu971Ter)
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs) rs1555961350
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs) rs2147190470
NM_001034853.2(RPGR):c.3231_3234del (p.Asn1077fs)
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer) rs2067115815
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.360del (p.Gly122fs)
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_001034853.2(RPGR):c.408dup (p.Thr137fs)
NM_001034853.2(RPGR):c.427A>T (p.Lys143Ter)
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
NM_001034853.2(RPGR):c.470-1G>A
NM_001034853.2(RPGR):c.494G>T (p.Gly165Val)
NM_001034853.2(RPGR):c.619+2_619+5del
NM_001034853.2(RPGR):c.619+5G>C
NM_001034853.2(RPGR):c.636T>G (p.Tyr212Ter)
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_001034853.2(RPGR):c.778+1G>T
NM_001034853.2(RPGR):c.783_784insA (p.Ala262fs)
NM_001034853.2(RPGR):c.799G>C (p.Gly267Arg) rs2147248035
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594

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