ClinVar Miner

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

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ClinVar version:
Total variants: 176
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HGVS dbSNP
NC_000006.12:g.99593098A>C rs1583607800
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000087.4(CNGA1):c.1056C>A (p.Ser352Arg) rs759079269
NM_000087.4(CNGA1):c.515T>G (p.Ile172Ser) rs373448145
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_000180.4(GUCY2D):c.2521G>A (p.Glu841Lys) rs1341592819
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2704G>T (p.Val902Leu) rs1598150793
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867
NM_000274.3(OAT):c.800C>T (p.Thr267Ile) rs386833618
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
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.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg) rs1582764600
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) rs138965708
NM_000328.3(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_000328.3(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000330.3(RS1):c.326G>A (p.Gly109Glu) rs281865345
NM_000330.3(RS1):c.329G>A (p.Cys110Tyr) rs61752075
NM_000330.3(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.3(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.3(RS1):c.578C>T (p.Pro193Leu) rs281865352
NM_000330.3(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu) rs1570393727
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) rs61749429
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser) rs1570433137
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys) rs61752439
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro) rs1161119501
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
NM_000350.3(ABCA4):c.[1531C>T;872C>T]
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363
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_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) rs1584728115
NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser) rs1396413765
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896
NM_001142564.1(CNGA1):c.1838T>G (p.Phe613Cys) rs1578059695
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) rs1582139184
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.3883-6G>A rs72664214
NM_001171.5(ABCC6):c.4424G>A (p.Gly1475Glu) rs1596578599
NM_001199771.2(RDH5):c.880G>C (p.Ala294Pro) rs111033593
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys) rs1572875669
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595
NM_001256789.3(CACNA1F):c.4261-9G>A rs1602628429
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu) rs1602627593
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001298.3(CNGA3):c.1114C>G (p.Pro372Ala) rs1464167194
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859
NM_001298.3(CNGA3):c.316G>A (p.Glu106Lys) rs375152706
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly) rs1574390600
NM_001793.6(CDH3):c.2200G>A (p.Val734Met) rs775541873
NM_001793.6(CDH3):c.830G>A (p.Gly277Asp) rs1597807897
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_004183.4(BEST1):c.218T>A (p.Ile73Asn) rs1591280714
NM_004928.3(CFAP410):c.364G>A (p.Asp122Asn) rs1602079250
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg) rs766703340
NM_006204.4(PDE6C):c.490T>C (p.Phe164Leu) rs1589693002
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006915.3(RP2):c.328T>C (p.Cys110Arg) rs1602347741
NM_012193.4(FZD4):c.349T>C (p.Cys117Arg) rs759432455
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243
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.311G>A (p.Arg104Gln) rs766096417
NM_014249.4(NR2E3):c.352G>A (p.Val118Met) rs776270511
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.5243A>T (p.Gln1748Leu) rs1572936360
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.782A>G (p.Asp261Gly) rs1233466909
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln) rs75267011
NM_020366.3(RPGRIP1):c.2249A>G (p.Tyr750Cys) rs1594214013
NM_020964.3(EPG5):c.2609C>G (p.Ser870Cys) rs1479239564
NM_022567.2(NYX):c.1018T>G (p.Cys340Gly) rs1602181006
NM_022567.2(NYX):c.350T>A (p.Leu117Gln) rs1602180352
NM_022567.2(NYX):c.496G>C (p.Ala166Pro) rs1602180478
NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro) rs966073464
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp) rs760942217
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg) rs1586692857
NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly) rs1586686896
NM_133497.4(KCNV2):c.758del (p.Pro253fs) rs1586687247
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) rs201625237
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) rs1571524269
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) rs760544654
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796

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