ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016 0.00004
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_001793.6(CDH3):c.2200G>A (p.Val734Met) rs775541873 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys) rs1594214013 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg) rs375978676
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys) rs61755816
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.497C>T (p.Ala166Val) rs1578279746
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) rs104893794
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) rs1584728115
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) rs1582139184
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys) rs1572875669
NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys) rs1578059695
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006915.3(RP2):c.328T>C (p.Cys110Arg) rs1602347741
NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser) rs1597445687
NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu) rs527236113
NM_014249.4(NR2E3):c.352G>A (p.Val118Met) rs776270511
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) rs1571524269
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) rs760544654
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796

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