ClinVar Miner

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

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs) rs1569237670 0.00001
NM_001034853.2(RPGR):c.1060-2A>G rs2067453631
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter) rs2067451355
NM_001034853.2(RPGR):c.1170del (p.Leu391fs) rs2067449854
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter) rs2067985937
NM_001034853.2(RPGR):c.1245+3A>G rs62635002
NM_001034853.2(RPGR):c.128dup (p.Asp44fs) rs2067985696
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.1491del (p.Asp498fs) rs2067277129
NM_001034853.2(RPGR):c.1538del (p.Lys513fs) rs2067267431
NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter) rs2067218363
NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter) rs2067217874
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs) rs2067976665
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs) rs2067217398
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter) rs2067216516
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys) rs2067976284
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter) rs2067202860
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs) rs2067201139
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg) rs2067975926
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer) rs2067193857
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs) rs2067196140
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs) rs2067193155
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs) rs2067190364
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter) rs1305342570
NM_001034853.2(RPGR):c.2138del (p.Lys713fs) rs2067191635
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter) rs2067191154
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs) rs2067190922
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter) rs2067188111
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs) rs2067186762
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs) rs2067184831
NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs) rs2067184362
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) rs2067182354
NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter) rs1168146969
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter) rs1601922510
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs) rs2067176160
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) rs2067172824
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter) rs2067169164
NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs) rs2067164990
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter) rs2067159456
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter) rs2067146202
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs) rs2067136586
NM_001034853.2(RPGR):c.2938_2959dup (p.Glu987fs) rs2067136009
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter) rs866524368
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter) rs2067118339
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter) rs2067117239
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer) rs2067115815
NM_001034853.2(RPGR):c.327dup (p.Ala110fs) rs2067878443
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs) rs2067114709
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp) rs2067878321
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.382_383del (p.Asn128fs) rs2067877357
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.619+2T>A rs2067844613
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg) rs62642057
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg) rs62640589

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