ClinVar Miner

List of variants reported as pathogenic for retinitis pigmentosa by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (154):
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter) rs1581190641 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000328.2(RPGR):c.*644del rs1601890980
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) rs1601891967
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) rs1601891936
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) rs886041178
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) rs1581180469
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.28+1G>C rs62638627
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.6079_6191del
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) rs1582221424
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001297.5(CNGB1):c.2166+1G>A rs1596976316
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) rs1585563965
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) rs1585564175
NM_006343.2:c.(?_-1)_(1144+1_1145-1)del
NM_006915.3(RP2):c.16_18del (p.Ser6del) rs137852284
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
NM_015629.4(PRPF31):c.997del (p.Glu333fs) rs1600355502
NM_022124.6(CDH23):c.5710_5712+3del rs1589420011
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043

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