ClinVar Miner

List of variants studied for Retinitis pigmentosa by Department of Ophthalmology and Visual Sciences Kyoto University

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_001354768.3(NRL):c.23del (p.Leu8fs) rs527236087 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_000283.4(PDE6B):c.1467+1G>C rs527236089 0.00001
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) rs527236103 0.00001
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063 0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001242957.3(MAK):c.496C>T (p.Arg166Cys) rs527236081 0.00001
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr) rs527236080 0.00001
NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser) rs527236057 0.00001
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) rs527236085
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.993-1G>C rs527236090
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.562G>A (p.Gly188Arg) rs527236100
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102
NM_000554.6(CRX):c.193G>C (p.Asp65His) rs527236062
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) rs527236070
NM_001242957.3(MAK):c.340dup (p.Ala114fs) rs527236082
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs) rs527236061
NM_001379270.1(CNGA1):c.179del (p.Gly60fs) rs527236058
NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly) rs527236059
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) rs527236079
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_012469.4(PRPF6):c.550G>C (p.Asp184His) rs527236096
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) rs527236114
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter) rs527236094
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu) rs527236095
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_206933.2(USH2A):c.8682delG rs527236120
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118

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