ClinVar Miner

List of variants reported as likely pathogenic for retinal disorder by Department of Ophthalmology and Visual Sciences Kyoto University

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_001354768.3(NRL):c.23del (p.Leu8fs) rs527236087 0.00003
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063 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.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_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 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_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102
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_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.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.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_004744.5(LRAT):c.163C>T (p.Arg55Trp) rs527236079
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006343.3(MERTK):c.370C>T (p.Gln124Ter) rs527236134
NM_012469.4(PRPF6):c.550G>C (p.Asp184His) rs527236096
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
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_206933.2(USH2A):c.8682delG rs527236120
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.