ClinVar Miner

List of variants in gene RPGR reported as pathogenic for Retinitis pigmentosa

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Total variants: 11
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HGVS dbSNP
NM_000328.2(RPGR):c.*644del
NM_000328.3(RPGR):c.1368_1369AG[2] (p.Ser458fs) rs1555964133
NM_000328.3(RPGR):c.1572+3A>T rs1555962831
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+414AG[2] rs1555961832
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)
NM_000328.3(RPGR):c.248-2A>G rs62638633
NM_000328.3(RPGR):c.28+1G>C
NM_000328.3(RPGR):c.578_588del (p.Ser193fs) rs1569257917

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