ClinVar Miner

List of variants in gene RPGR studied for Retinitis pigmentosa

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Total variants: 96
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HGVS dbSNP
NM_000328.2(RPGR):c.*644del rs1601890980
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.1217dup (p.Ser407fs) rs1601943325
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.1237_1238AG[3] (p.Arg415fs) rs281865302
NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_000328.3(RPGR):c.1334C>G (p.Ser445Ter) rs1601940608
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
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.154+1G>A
NM_000328.3(RPGR):c.1572+1G>A rs1601931052
NM_000328.3(RPGR):c.1572+3A>T rs1555962831
NM_000328.3(RPGR):c.1573-3C>G rs1601926845
NM_000328.3(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_000328.3(RPGR):c.1754-15_1754-5del
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+1059_1905+1060del rs1555961440
NM_000328.3(RPGR):c.1905+1082AAG[2] rs1356107537
NM_000328.3(RPGR):c.1905+1144G>T
NM_000328.3(RPGR):c.1905+1172_1905+1175del
NM_000328.3(RPGR):c.1905+118G>T rs1601924184
NM_000328.3(RPGR):c.1905+1199_1905+1200del rs1601917999
NM_000328.3(RPGR):c.1905+1270del
NM_000328.3(RPGR):c.1905+133_1905+151del rs1601924111
NM_000328.3(RPGR):c.1905+1468C>T rs1601917052
NM_000328.3(RPGR):c.1905+153dup
NM_000328.3(RPGR):c.1905+178G>T
NM_000328.3(RPGR):c.1905+218A>G
NM_000328.3(RPGR):c.1905+238_1905+239del
NM_000328.3(RPGR):c.1905+268C>T rs907856232
NM_000328.3(RPGR):c.1905+280G>T rs1601923813
NM_000328.3(RPGR):c.1905+316_1905+319del rs1601923578
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+367G>T rs1601923388
NM_000328.3(RPGR):c.1905+414AG[2] rs1555961832
NM_000328.3(RPGR):c.1905+416_1905+443del
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000328.3(RPGR):c.1905+505A>T rs1601922877
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000328.3(RPGR):c.1905+542del
NM_000328.3(RPGR):c.1905+556G>T
NM_000328.3(RPGR):c.1905+58dup
NM_000328.3(RPGR):c.1905+617del rs1601922202
NM_000328.3(RPGR):c.1905+618dup
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+717_1905+1151del
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+76G>T rs527236108
NM_000328.3(RPGR):c.1905+830del
NM_000328.3(RPGR):c.1905+867_1905+868dup rs1601920599
NM_000328.3(RPGR):c.1905+885_1905+886del rs1601920423
NM_000328.3(RPGR):c.1905+892del rs1346308311
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
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.2405_2406del (p.Pro802fs) rs1601891967
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) rs1601891936
NM_000328.3(RPGR):c.248-2A>G rs62638633
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000328.3(RPGR):c.259G>T (p.Glu87Ter) rs1601978991
NM_000328.3(RPGR):c.28+1G>C rs62638627
NM_000328.3(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_000328.3(RPGR):c.29-1G>T
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_000328.3(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_000328.3(RPGR):c.310G>T (p.Glu104Ter) rs1601978823
NM_000328.3(RPGR):c.389T>C (p.Phe130Ser)
NM_000328.3(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.492G>T (p.Trp164Cys) rs62638648
NM_000328.3(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_000328.3(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_000328.3(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_000328.3(RPGR):c.602A>T (p.His201Leu)
NM_000328.3(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_000328.3(RPGR):c.779-3C>A rs1555965712
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587
NM_000328.3(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_000328.3(RPGR):c.897dup (p.Ile300fs) rs1601951704
NM_000328.3(RPGR):c.907G>T (p.Gly303Ter)
NM_000328.3(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_000328.3(RPGR):c.935-1G>T
NM_000328.3(RPGR):c.957del (p.Phe319fs) rs1601947074

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