ClinVar Miner

List of variants in gene RPGR reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_000328.3(RPGR):c.1164G>A (p.Ala388=) rs1801686
NM_000328.3(RPGR):c.1274G>A (p.Arg425Lys) rs1801687
NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) rs144635565
NM_000328.3(RPGR):c.1572+11A>G rs62635008
NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) rs62653033
NM_000328.3(RPGR):c.1598C>T (p.Thr533Met) rs41312104
NM_000328.3(RPGR):c.1697G>A (p.Gly566Glu) rs1801688
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.29-15G>A rs6651585
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) rs138018739

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