ClinVar Miner

List of variants in gene RPGR studied for Retinitis pigmentosa

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Total variants: 32
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HGVS dbSNP
NM_000328.2(RPGR):c.*644del
NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_000328.3(RPGR):c.1179T>G (p.Tyr393Ter)
NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter)
NM_000328.3(RPGR):c.1236_1239del (p.Glu414fs)
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.1368_1369AG[2] (p.Ser458fs) rs1555964133
NM_000328.3(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_000328.3(RPGR):c.1572+3A>T rs1555962831
NM_000328.3(RPGR):c.1573-3C>G
NM_000328.3(RPGR):c.1731dup (p.Ala578fs)
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+345_1905+346del rs1555961849
NM_000328.3(RPGR):c.1905+414AG[2] rs1555961832
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000328.3(RPGR):c.1905+76G>T rs527236108
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
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.469+1G>A rs62638646
NM_000328.3(RPGR):c.492G>T (p.Trp164Cys)
NM_000328.3(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_000328.3(RPGR):c.779-3C>A rs1555965712
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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