ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP
NM_000328.3(RPGR):c.1066T>C (p.Cys356Arg) rs794726978
NM_000328.3(RPGR):c.1145A>T (p.Asp382Val) rs757714144
NM_000328.3(RPGR):c.1164G>A (p.Ala388=) rs1801686
NM_000328.3(RPGR):c.1257A>C (p.Pro419=) rs759743089
NM_000328.3(RPGR):c.1274G>A (p.Arg425Lys) rs1801687
NM_000328.3(RPGR):c.1348T>C (p.Cys450Arg) rs794727019
NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) rs144635565
NM_000328.3(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.154G>A (p.Gly52Arg)
NM_000328.3(RPGR):c.155-2A>G rs62638632
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.1709C>T (p.Thr570Met) rs202154504
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733
NM_000328.3(RPGR):c.29-15G>A rs6651585
NM_000328.3(RPGR):c.36T>G (p.Gly12=) rs769123303
NM_000328.3(RPGR):c.486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_000328.3(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.777G>A (p.Thr259=) rs794727844
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) rs138018739
NM_000328.3(RPGR):c.806G>A (p.Gly269Glu) rs398123336

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