ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_000328.2(RPGR):c.1179T>G (p.Tyr393Ter)
NM_000328.2(RPGR):c.1234C>T (p.Arg412Ter)
NM_000328.2(RPGR):c.1236_1239del (p.Glu414Glyfs)
NM_000328.2(RPGR):c.1573-3C>G
NM_000328.2(RPGR):c.1730dup (p.Ala578Serfs)
NM_000328.2(RPGR):c.2257_2260del (p.Arg753Serfs)
NM_000328.2(RPGR):c.469+1G>A rs62638646
NM_000328.2(RPGR):c.914dup (p.Asn305Lysfs) rs1555965653
NM_001034853.1(RPGR):c.1087_1088insGTAG (p.Val363Glyfs) rs527236109
NM_001034853.1(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_001034853.1(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_001034853.1(RPGR):c.1393delC (p.Leu465Serfs) rs1555964122
NM_001034853.1(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_001034853.1(RPGR):c.1894_1897delGACA (p.Asp632Lysfs) rs1555961964
NM_001034853.1(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.1(RPGR):c.2250_2251delGA (p.Lys751Glyfs) rs1555961849
NM_001034853.1(RPGR):c.2384delA (p.Glu795Glyfs)
NM_001034853.1(RPGR):c.779-3C>A rs1555965712
NM_001034853.1(RPGR):c.894_895del (p.Ser298Argfs) rs527236111
NM_001034853.1(RPGR):c.922G>C (p.Ala308Pro) rs527236112

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