ClinVar Miner

List of variants in gene RPGR studied for not specified

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.29-15G>A rs6651585 0.21451
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_001034853.2(RPGR):c.1245+16A>G rs5918522 0.13807
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr) rs5917557 0.13157
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=) rs147619484 0.08849
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile) rs12688514 0.07772
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=) rs111787313 0.06277
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=) rs78736275 0.06219
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val) rs62635003 0.05955
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_001034853.2(RPGR):c.620-41T>C rs45486397 0.03373
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.1059+25T>C rs80178653 0.02702
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr) rs34117835 0.02675
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000328.3(RPGR):c.2242-8T>C rs112368541 0.01109
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp) rs41305223 0.00731
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001034853.2(RPGR):c.778+13T>A rs199625400 0.00624
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590 0.00361
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00045
NM_001034853.2(RPGR):c.1059+6G>A rs377731326 0.00035
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=) rs145089607 0.00012
NM_001034853.2(RPGR):c.1245+6A>G rs886038281 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_001034853.2(RPGR):c.1200T>C (p.Asn400=) rs768625051 0.00001
NM_000328.3(RPGR):c.2066A>T (p.Asp689Val) rs2147168869
NM_000328.3(RPGR):c.2149+4T>G rs945212131
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733
NM_001034853.2(RPGR):c.1084G>A (p.Val362Ile) rs866718135
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu) rs2067408372
NM_001034853.2(RPGR):c.155-13del rs886038282
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.2180T>A (p.Met727Lys)
NM_001034853.2(RPGR):c.2254del (p.Glu752fs) rs1060499897
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5]) rs751710678
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=) rs750364695
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del) rs199663434
NM_001034853.2(RPGR):c.2956_2957insA (p.Gly986fs) rs1060499896
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1]) rs199896738
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu) rs2147280505
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)

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