ClinVar Miner

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

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ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) rs527236085
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.3(PDE6B):c.993-1G>C rs527236090
NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_000328.3(RPGR):c.1905+76G>T rs527236108
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056
NM_001142564.1(CNGA1):c.1046G>A (p.Arg349His) rs375412499
NM_001142564.1(CNGA1):c.1196A>G (p.Asp399Gly) rs527236059
NM_001142564.1(CNGA1):c.1840G>A (p.Gly614Ser) rs527236057
NM_001142564.1(CNGA1):c.398del (p.Gly133fs) rs527236058
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.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) rs527236070
NM_001242957.2(MAK):c.340dup (p.Ala114fs) rs527236082
NM_001242957.2(MAK):c.496C>T (p.Arg166Cys) rs527236081
NM_001242957.2(MAK):c.553G>A (p.Ala185Thr) rs527236080
NM_001297.5(CNGB1):c.217+5G>C rs527236060
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs) rs527236061
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) rs527236079
NM_006177.5(NRL):c.23del (p.Leu8fs) rs527236087
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083
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_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086
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_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054
NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) rs527236120
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.3(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016

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