ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP
NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_000328.3(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_000328.3(RPGR):c.1236_1239del (p.Glu414fs) rs1601943227
NM_000328.3(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_000328.3(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_000328.3(RPGR):c.1573-3C>G rs1601926845
NM_000328.3(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+345_1905+346del rs1555961849
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+76G>T rs527236108
NM_000328.3(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_000328.3(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
NM_000328.3(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_000328.3(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_000328.3(RPGR):c.779-3C>A rs1555965712
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_000328.3(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) rs527236112

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