ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter) rs567961453 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs) rs1555964133
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2569del (p.Arg857fs) rs1554671407
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) rs1554519533
NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) rs1554519546
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043

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