ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 854
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_004183.4(BEST1):c.1087A>C (p.Thr363Pro) rs147228028 0.00045
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_001252024.2(TRPM1):c.281A>G (p.Tyr94Cys) rs200514769 0.00019
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) rs199837807 0.00018
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_012338.4(TSPAN12):c.334G>A (p.Val112Ile) rs143445702 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_000330.4(RS1):c.150G>T (p.Trp50Cys) rs200866925 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000283.4(PDE6B):c.700C>T (p.Arg234Cys) rs374915809 0.00008
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_025114.4(CEP290):c.6646-11T>G rs1431021703 0.00007
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe) rs372508062 0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000440.3(PDE6A):c.305G>A (p.Arg102His) rs750539462 0.00004
NM_000539.3(RHO):c.625G>A (p.Val209Met) rs567288669 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001252024.2(TRPM1):c.2849G>A (p.Arg950Gln) rs766396216 0.00004
NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) rs201185969 0.00004
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_004183.4(BEST1):c.830C>T (p.Thr277Met) rs775791299 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_172364.5(CACNA2D4):c.2552-1G>A rs920314861 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426 0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121 0.00003
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=) rs751844313 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_001029883.3(PCARE):c.1550C>T (p.Ser517Leu) rs753527026 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln) rs1805142 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp) rs780168150 0.00003
NM_015662.3(IFT172):c.336G>A (p.Thr112=) rs1158316267 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1654C>T (p.Arg552Trp) rs1201231261 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) rs1010982936 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_004183.4(BEST1):c.102C>T (p.Gly34=) rs771898125 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser) rs71532862 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) rs781192528 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_133497.4(KCNV2):c.1408G>A (p.Gly470Ser) rs990370382 0.00002
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) rs768713412 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000283.4(PDE6B):c.2419T>C (p.Trp807Arg) rs121918583 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys) rs1761910060 0.00001
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg) rs61755800 0.00001
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) rs190761343 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062 0.00001
NM_000350.3(ABCA4):c.3409A>G (p.Arg1137Gly) rs765328414 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) rs886044741 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr) rs780817685 0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000350.3(ABCA4):c.6282+1G>C rs770453727 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser) rs62645950 0.00001
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) rs527236103 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_001034853.2(RPGR):c.778+5G>A rs62640583 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001142800.2(EYS):c.5319_5342del (p.Asn1773_Val1781delinsLys) rs1447628856 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser) rs387906647 0.00001
NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu) rs587777599 0.00001
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) rs202044896 0.00001
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612 0.00001
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) rs757650055 0.00001
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp) rs1042726781 0.00001
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser) rs761661253 0.00001
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln) rs371238926 0.00001
NM_001793.6(CDH3):c.1507C>T (p.Arg503Cys) rs375040740 0.00001
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) rs761131376 0.00001
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312 0.00001
NM_002335.4(LRP5):c.4099G>A (p.Glu1367Lys) rs28939709 0.00001
NM_002905.5(RDH5):c.833G>A (p.Arg278Gln) rs756680042 0.00001
NM_003322.6(TULP1):c.1132C>T (p.Arg378Cys) rs749599096 0.00001
NM_003835.4(RGS9):c.976+2T>C rs199537336 0.00001
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp) rs747894786 0.00001
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys) rs200546584 0.00001
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln) rs765491333 0.00001
NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter) rs932467788 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847 0.00001
NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala) rs746501731 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_177965.4(CFAP418):c.394T>C (p.Cys132Arg) rs1050414071 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) rs1378799607 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) rs772407116 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NC_000003.12:g.(?_193593377)_(193593410_193614722)del
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2480A>C (p.Tyr827Ser)
NM_000180.4(GUCY2D):c.2480A>T (p.Tyr827Phe)
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2522A>G (p.Glu841Gly)
NM_000180.4(GUCY2D):c.2642T>C (p.Leu881Pro)
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala) rs1975935914
NM_000180.4(GUCY2D):c.2740G>A (p.Ala914Thr)
NM_000180.4(GUCY2D):c.737T>C (p.Met246Thr)
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
NM_000260.4(MYO7A):c.397del (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000260.4(MYO7A):c.[3547C>A;5637-3C>G]
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.329G>T (p.Cys110Phe) rs2147204715
NM_000272.5:c.(1251+1_1252-1)_(1437+1_1438-1)del
NM_000283.4(PDE6B):c.1403C>T (p.Pro468Leu) rs1420482878
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_000283.4(PDE6B):c.1684G>A (p.Gly562Ser)
NM_000283.4(PDE6B):c.1837del (p.Gln613fs)
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000283.4(PDE6B):c.2396G>C (p.Arg799Pro) rs546425862
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.5(PRPH2):c.442G>T (p.Gly148Cys)
NM_000322.5(PRPH2):c.457A>C (p.Lys153Gln)
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.469G>T (p.Asp157Tyr)
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr) rs1800118213
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp) rs1220783333
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.721G>C (p.Glu241Gln)
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser) rs2152005248
NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg) rs1064793931
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro) rs2152005198
NM_000322.5(PRPH2):c.829-3_829-1del rs2152003876
NM_000322.5(PRPH2):c.851G>A (p.Arg284His)
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.827del (p.Phe276fs) rs2150968520
NM_000329.3(RPE65):c.172del (p.Tyr58fs)
NM_000329.3(RPE65):c.200T>A (p.Leu67Gln)
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000330.4(RS1):c.208G>T (p.Gly70Cys)
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.311A>C (p.Asn104Thr) rs1927814979
NM_000330.4(RS1):c.326G>C (p.Gly109Ala) rs281865345
NM_000330.4(RS1):c.328T>G (p.Cys110Gly)
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
NM_000330.4(RS1):c.380T>G (p.Leu127Arg)
NM_000330.4(RS1):c.410T>C (p.Leu137Pro)
NM_000330.4(RS1):c.449A>C (p.Lys150Thr)
NM_000330.4(RS1):c.458T>C (p.Val153Ala)
NM_000330.4(RS1):c.587C>T (p.Ser196Phe)
NM_000330.4(RS1):c.590G>T (p.Arg197Leu)
NM_000330.4(RS1):c.602T>G (p.Leu201Arg)
NM_000330.4(RS1):c.617G>C (p.Trp206Ser) rs2147188942
NM_000330.4(RS1):c.643G>C (p.Glu215Gln) rs281865367
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1495T>C (p.Trp499Arg)
NM_000350.3(ABCA4):c.1520A>G (p.Asp507Gly)
NM_000350.3(ABCA4):c.1523G>C (p.Arg508Pro)
NM_000350.3(ABCA4):c.1553A>C (p.Glu518Ala)
NM_000350.3(ABCA4):c.1574T>C (p.Phe525Ser)
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1832T>C (p.Leu611Pro)
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.2256C>A (p.Ser752Arg)
NM_000350.3(ABCA4):c.2290T>C (p.Cys764Arg)
NM_000350.3(ABCA4):c.2382+4A>G
NM_000350.3(ABCA4):c.2440G>A (p.Glu814Lys)
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg) rs1660938577
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys) rs143797418
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.3(ABCA4):c.2743G>A (p.Asp915Asn) rs139035971
NM_000350.3(ABCA4):c.2744-2A>G
NM_000350.3(ABCA4):c.2802_2804del (p.Val935del)
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.3(ABCA4):c.2843G>C (p.Arg948Pro)
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser) rs1660701838
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2905A>C (p.Lys969Gln)
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp) rs61749453
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2950T>C (p.Ser984Pro)
NM_000350.3(ABCA4):c.2953G>A (p.Gly985Arg)
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp) rs1660620340
NM_000350.3(ABCA4):c.303-3C>G
NM_000350.3(ABCA4):c.3089T>A (p.Leu1030Gln)
NM_000350.3(ABCA4):c.3191-11T>A
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr) rs138641544
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) rs1660480045
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) rs886044737
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr) rs886044738
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys) rs1183074086
NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro) rs369105023
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.4289T>C (p.Leu1430Pro)
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp) rs61750140
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4539G>C (p.Gln1513His)
NM_000350.3(ABCA4):c.4595A>T (p.Asp1532Val)
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys) rs1401716074
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.4880_4903dup (p.Ala1634_His1635insLeuValSerPheLeuAsnValAla)
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5153T>G (p.Val1718Gly) rs886044732
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser) rs1571256634
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg) rs374015407
NM_000350.3(ABCA4):c.5342C>A (p.Ala1781Glu)
NM_000350.3(ABCA4):c.5509C>G (p.Pro1837Ala)
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn) rs62642562
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
NM_000350.3(ABCA4):c.5898+5G>A
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu) rs1659430629
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg) rs61753036
NM_000350.3(ABCA4):c.5926G>A (p.Ala1976Thr)
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.5977T>C (p.Ser1993Pro)
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg) rs1242866408
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.3(ABCA4):c.6176G>A (p.Gly2059Asp)
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6225C>G (p.Asn2075Lys)
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6287A>G (p.Glu2096Gly)
NM_000350.3(ABCA4):c.6304G>C (p.Asp2102His)
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg) rs774475956
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys) rs1571241947
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.652_660del (p.Gln218_Arg220del)
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg) rs886044764
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000362.5(TIMP3):c.410A>G (p.Tyr137Cys) rs2048424649
NM_000362.5(TIMP3):c.452A>G (p.Tyr151Cys) rs2048464498
NM_000390.4(CHM):c.131_134dup (p.Asn46fs)
NM_000390.4(CHM):c.1745T>A (p.Leu582Ter)
NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)
NM_000539.3(RHO):c.1003del (p.Ala335fs)
NM_000539.3(RHO):c.1030_1031del (p.Gln344fs)
NM_000539.3(RHO):c.1037C>A (p.Ala346Asp)
NM_000539.3(RHO):c.10A>C (p.Thr4Pro)
NM_000539.3(RHO):c.140T>G (p.Leu47Arg)
NM_000539.3(RHO):c.182T>A (p.Val61Asp)
NM_000539.3(RHO):c.217_219del (p.Asn73del) rs398122525
NM_000539.3(RHO):c.26T>G (p.Phe9Cys)
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.376T>G (p.Trp126Gly)
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.485T>A (p.Val162Asp)
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.539C>G (p.Pro180Arg) rs2084785483
NM_000539.3(RHO):c.568G>C (p.Asp190His) rs104893779
NM_000539.3(RHO):c.569A>T (p.Asp190Val)
NM_000539.3(RHO):c.644C>T (p.Pro215Leu) rs2084786704
NM_000539.3(RHO):c.706C>T (p.Gln236Ter)
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.854C>G (p.Pro285Arg)
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.937-2A>T rs1578281565
NM_000554.6(CRX):c.122G>C (p.Arg41Pro)
NM_000554.6(CRX):c.158A>G (p.Glu53Gly)
NM_000843.4(GRM6):c.2267G>A (p.Gly756Asp)
NM_000883.4(IMPDH1):c.730A>C (p.Thr244Pro) rs1253235754
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del) rs1554414710
NM_000883.4(IMPDH1):c.936GAA[4] (p.Lys314_Asn315insLys)
NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) rs1798090540
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)
NM_001012720.2(RGR):c.337C>T (p.Arg113Cys) rs142050467
NM_001017979.3(RAB28):c.71G>C (p.Gly24Ala)
NM_001029883.3(PCARE):c.3128_3129dup (p.Thr1044fs)
NM_001029883.3(PCARE):c.3725del (p.Pro1242fs)
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.178G>T (p.Gly60Cys)
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter) rs2147197770
NM_001034853.2(RPGR):c.247+5G>A rs2067974156
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
NM_001034853.2(RPGR):c.284G>A (p.Gly95Glu)
NM_001034853.2(RPGR):c.2983_2986dup (p.Glu996fs)
NM_001034853.2(RPGR):c.311-21_311-9delinsG
NM_001034853.2(RPGR):c.353A>G (p.Gln118Arg)
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys) rs62638648
NM_001034853.2(RPGR):c.593G>A (p.Gly198Glu)
NM_001034853.2(RPGR):c.613del (p.Phe204_Val205insTer)
NM_001034853.2:c.(310+1_311-1)_(1414+1_1415-1)dup
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001098.3(ACO2):c.2209-1G>T
NM_001142800.2(EYS):c.1699dup (p.Thr567fs)
NM_001142800.2(EYS):c.2923T>A (p.Cys975Ser)
NM_001142800.2(EYS):c.6482del (p.Phe2160_Leu2161insTer)
NM_001142800.2(EYS):c.8122T>C (p.Ser2708Pro)
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965
NM_001142800.2:c.(5835+1_5836-1294)_(6078+1_6079-1)dup
NM_001201543.2(FAM161A):c.2034_2037del (p.Glu680fs) rs748147923
NM_001201543.2(FAM161A):c.730del (p.Gln243_Met244insTer) rs1167380267
NM_001242957.3(MAK):c.104T>A (p.Met35Lys)
NM_001242957.3(MAK):c.1465+2dup
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001242957.3(MAK):c.1741C>T (p.Gln581Ter)
NM_001242957.3(MAK):c.388A>C (p.Asn130His) rs387906646
NM_001242957.3(MAK):c.552G>C (p.Trp184Cys)
NM_001242957.3(MAK):c.79G>C (p.Gly27Arg) rs754916169
NM_001252024.2(TRPM1):c.2194A>G (p.Thr732Ala) rs1451287233
NM_001252024.2(TRPM1):c.2336T>C (p.Leu779Pro)
NM_001252024.2(TRPM1):c.2952G>A (p.Met984Ile)
NM_001256789.3(CACNA1F):c.3863G>C (p.Arg1288Pro) rs1316183278
NM_001256789.3(CACNA1F):c.4466C>G (p.Pro1489Arg)
NM_001256789.3(CACNA1F):c.5207dup (p.Asp1736fs)
NM_001278293.3(ARL6):c.294T>G (p.Asp98Glu)
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) rs1591299252
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.1091C>A (p.Thr364Asn)
NM_001298.3(CNGA3):c.1126GAG[1] (p.Glu377del)
NM_001298.3(CNGA3):c.1456T>C (p.Cys486Arg)
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg) rs2104250058
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala) rs2104236067
NM_001298.3(CNGA3):c.784G>C (p.Ala262Pro)
NM_001298.3(CNGA3):c.811C>T (p.Pro271Ser)
NM_001349884.2(DRAM2):c.231A>T (p.Gln77His)
NM_001354768.3(NRL):c.148T>C (p.Ser50Pro)
NM_001354768.3(NRL):c.152C>A (p.Pro51His) rs2036353653
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg)
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)
NM_001371596.2(MFSD8):c.710T>G (p.Val237Gly)
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_001378454.1:c.(12298+1_12299-1)_(12362+1_12363-1)del
NM_001378477.3(NYX):c.1009T>C (p.Cys337Arg)
NM_001378477.3(NYX):c.476T>G (p.Leu159Arg)
NM_001378477.3(NYX):c.865G>A (p.Glu289Lys)
NM_001378477.3(NYX):c.992A>C (p.Asn331Thr)
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.934G>A (p.Glu312Lys) rs1716841949
NM_001384910.1(GUCA1A):c.119G>T (p.Arg40Leu) rs186171388
NM_001384910.1(GUCA1A):c.305A>G (p.Asp102Gly)
NM_001384910.1(GUCA1A):c.312C>A (p.Asn104Lys) rs749013749
NM_001384910.1(GUCA1A):c.431A>C (p.Asp144Ala)
NM_001384910.1(GUCA1A):c.527T>C (p.Leu176Pro)
NM_001563.4(IMPG1):c.713T>C (p.Leu238Pro) rs713993045
NM_001793.6(CDH3):c.461del (p.Pro154fs)
NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_002335.4(LRP5):c.1291T>C (p.Tyr431His)
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) rs1565083843
NM_002335.4(LRP5):c.2255G>A (p.Arg752Gln)
NM_002335.4(LRP5):c.2576A>G (p.Tyr859Cys)
NM_002335.4(LRP5):c.3683G>C (p.Cys1228Ser) rs2098670820
NM_002497.4(NEK2):c.775C>T (p.Arg259Ter) rs761216195
NM_002905.5(RDH5):c.602C>T (p.Ser201Phe)
NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys) rs765070399
NM_003322.6(TULP1):c.1010T>C (p.Leu337Ser) rs749227332
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_003322.6(TULP1):c.1102G>C (p.Gly368Arg)
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.1450A>C (p.Thr484Pro)
NM_003322.6(TULP1):c.1550A>G (p.Asp517Gly)
NM_003322.6(TULP1):c.499+5G>T
NM_003816.3:c.(672+1_673-1)_(914+1_915-1)del
NM_003835.4(RGS9):c.16C>T (p.Gln6Ter)
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.106T>A (p.Phe36Ile)
NM_004183.4(BEST1):c.1403C>A (p.Pro468Gln)
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.173A>T (p.Gln58Leu) rs281865529
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.17C>T (p.Thr6Ile)
NM_004183.4(BEST1):c.200T>C (p.Leu67Pro)
NM_004183.4(BEST1):c.203A>G (p.Tyr68Cys)
NM_004183.4(BEST1):c.218T>C (p.Ile73Thr)
NM_004183.4(BEST1):c.25G>C (p.Val9Leu) rs28940276
NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg) rs281865228
NM_004183.4(BEST1):c.313C>G (p.Arg105Gly) rs281865273
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.352G>C (p.Asp118His)
NM_004183.4(BEST1):c.428T>C (p.Val143Ala)
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp) rs766379510
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
NM_004183.4(BEST1):c.652C>A (p.Arg218Ser) rs281865238
NM_004183.4(BEST1):c.676G>A (p.Ala226Thr)
NM_004183.4(BEST1):c.680A>T (p.Tyr227Phe)
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.695T>A (p.Ile232Asn)
NM_004183.4(BEST1):c.700C>G (p.Leu234Val) rs2134440476
NM_004183.4(BEST1):c.704T>G (p.Val235Gly)
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser) rs2134440586
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn) rs281865247
NM_004183.4(BEST1):c.80G>C (p.Ser27Thr)
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser) rs281865257
NM_004183.4(BEST1):c.91C>A (p.Leu31Met)
NM_004183.4(BEST1):c.920C>A (p.Thr307Asn)
NM_004183.4(BEST1):c.925T>C (p.Trp309Arg)
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr) rs281865271
NM_004183.4(BEST1):c.939G>T (p.Arg313Ser)
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305
NM_004183.4(BEST1):c.968A>T (p.Asp323Val) rs752756768
NM_004183.4(BEST1):c.98A>G (p.Tyr33Cys)
NM_004523.4(KIF11):c.308+2dup
NM_004744.5(LRAT):c.571G>T (p.Asp191Tyr)
NM_004928.3(CFAP410):c.191T>A (p.Leu64Gln)
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_005468.3(NAALADL1):c.1509-1G>A
NM_005654.6(NR2F1):c.1047del (p.Gln349fs)
NM_006005.3(WFS1):c.1297G>C (p.Ala433Pro)
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_006005.3(WFS1):c.2038G>C (p.Glu680Gln)
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) rs1064794257
NM_006005.3(WFS1):c.968A>G (p.His323Arg) rs1057368575
NM_006017.3(PROM1):c.252T>A (p.Tyr84Ter)
NM_006017.3(PROM1):c.465_470del (p.Arg155_Cys157delinsSer)
NM_006204.4(PDE6C):c.2005A>G (p.Ile669Val)
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2144T>A (p.Met715Lys)
NM_006204.4(PDE6C):c.2389G>A (p.Glu797Lys)
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter) rs1806041389
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.467T>C (p.Leu156Pro)
NM_006269.2(RP1):c.6065del (p.Lys2022fs)
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006343.3(MERTK):c.1050_1058del (p.Gln350_Ala353delinsHis)
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006445.4(PRPF8):c.1223C>T (p.Pro408Leu)
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6446_6462delinsACCACCACACCATG (p.Pro2149_His2154delinsHisHisHisThrMet)
NM_006445.4(PRPF8):c.6911T>G (p.Phe2304Cys)
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6938A>C (p.His2313Pro)
NM_006445.4(PRPF8):c.6942C>A (p.Phe2314Leu)
NM_006445.4(PRPF8):c.6994G>C (p.Asp2332His)
NM_006744.4(RBP4):c.38_56del (p.Leu13fs)
NM_006915.3(RP2):c.266G>A (p.Cys89Tyr)
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.566T>C (p.Leu189Pro) rs1924908706
NM_006915.3(RP2):c.810_811del (p.Ser271fs)
NM_006915.3(RP2):c.847G>T (p.Glu283Ter)
NM_007348.4(ATF6):c.1461_1475del (p.His488_Val492del)
NM_012193.4(FZD4):c.1334C>G (p.Thr445Arg)
NM_012193.4(FZD4):c.341T>A (p.Ile114Asn)
NM_012193.4(FZD4):c.716T>C (p.Leu239Pro) rs1949297493
NM_012338.4(TSPAN12):c.449G>T (p.Trp150Leu) rs2116363278
NM_012338.4:c.(66+1_67-1)_(285+1_286-1)del
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014053.4(FLVCR1):c.602G>A (p.Trp201Ter)
NM_014249.4(NR2E3):c.1036C>A (p.Gln346Lys)
NM_014249.4(NR2E3):c.1049A>G (p.Gln350Arg)
NM_014249.4(NR2E3):c.1095C>G (p.Pro365=)
NM_014249.4(NR2E3):c.1118T>C (p.Leu373Pro) rs2140294904
NM_014249.4(NR2E3):c.1167_1168del (p.Phe391fs)
NM_014249.4(NR2E3):c.702G>T (p.Trp234Cys)
NM_014336.5(AIPL1):c.276+5G>C
NM_014336.5(AIPL1):c.664T>C (p.Trp222Arg)
NM_014336.5(AIPL1):c.871_872insA (p.Leu291fs)
NM_014714.4(IFT140):c.3106del (p.Ala1036fs)
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) rs779007169
NM_014714.4(IFT140):c.4278del (p.Leu1427fs)
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4:c.(3453+1_3454-1)_(4182+1_4183-1)dup
NM_015072.5(TTLL5):c.215C>T (p.Thr72Met)
NM_015629.4(PRPF31):c.1146+5G>T
NM_015629.4(PRPF31):c.1146G>C (p.Glu382Asp)
NM_015629.4(PRPF31):c.1200del (p.Lys401fs)
NM_015629.4(PRPF31):c.1299_1300del (p.Val434fs)
NM_015629.4(PRPF31):c.421-58_434del
NM_015629.4(PRPF31):c.528-41_528-9del
NM_015629.4(PRPF31):c.646G>A (p.Ala216Thr)
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.908C>A (p.Ala303Asp)
NM_015662.3(IFT172):c.5008T>C (p.Tyr1670His)
NM_016247.4(IMPG2):c.1156A>T (p.Arg386Ter)
NM_016247.4(IMPG2):c.1208_1218del (p.Ser403fs)
NM_016247.4(IMPG2):c.3023-15T>A
NM_016247.4(IMPG2):c.3023G>A (p.Gly1008Asp)
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_016247.4(IMPG2):c.3125A>G (p.Tyr1042Cys) rs990633116
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe) rs713993049
NM_016247.4(IMPG2):c.3320C>A (p.Ala1107Asp)
NM_016247.4(IMPG2):c.887+430_908+274del
NM_018191.4(RCBTB1):c.1325-2A>G
NM_019098.5(CNGB3):c.1820A>G (p.Asn607Ser)
NM_020184.4(CNNM4):c.880C>T (p.His294Tyr)
NM_020184.4(CNNM4):c.947T>G (p.Leu316Arg)
NM_020366.4(RPGRIP1):c.131dup (p.Glu45fs)
NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser) rs1740380459
NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)
NM_021831.6(AGBL5):c.319del (p.Ala107fs)
NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn) rs779502033
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.3616C>A (p.Pro1206Thr)
NM_022124.6(CDH23):c.7192AAC[1] (p.Asn2399del)
NM_022124.6(CDH23):c.8560G>A (p.Gly2854Arg)
NM_022787.4(NMNAT1):c.679C>T (p.Arg227Trp)
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024685.4(BBS10):c.686C>T (p.Pro229Leu) rs1230692815
NM_024741.3(ZNF408):c.1996del (p.Glu666fs)
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_031475.3(ESPN):c.1464+2T>G
NM_032119.4(ADGRV1):c.10426+5G>A
NM_032119.4(ADGRV1):c.4112T>C (p.Ile1371Thr)
NM_032119.4(ADGRV1):c.4283T>C (p.Leu1428Pro) rs2149468589
NM_032317.3(DNAJC30):c.172dup (p.Ser58fs)
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033100.4(CDHR1):c.1837del (p.His613fs)
NM_033100.4(CDHR1):c.2175G>A (p.Trp725Ter)
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_130837.3(OPA1):c.1035+4_1035+5inv
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe) rs863224131
NM_130837.3(OPA1):c.1305G>A (p.Glu435=)
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1353_1354insACCA (p.Val452fs)
NM_130837.3(OPA1):c.1377+5G>A
NM_130837.3(OPA1):c.1442T>G (p.Met481Arg)
NM_130837.3(OPA1):c.1477G>C (p.Asp493His)
NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)
NM_130837.3(OPA1):c.1481G>A (p.Gly494Glu)
NM_130837.3(OPA1):c.1515dup (p.Val507fs)
NM_130837.3(OPA1):c.1541G>A (p.Gly514Glu)
NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
NM_130837.3(OPA1):c.2012+4_2012+7del
NM_130837.3(OPA1):c.2013-6T>G
NM_130837.3(OPA1):c.2439_2440+3dup
NM_130837.3(OPA1):c.2468G>A (p.Gly823Asp)
NM_130837.3(OPA1):c.2521-8T>G rs1064797303
NM_130837.3(OPA1):c.2981T>C (p.Leu994Pro)
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3011T>G (p.Leu1004Arg)
NM_130837.3(OPA1):c.983A>C (p.Asp328Ala)
NM_133497.4(KCNV2):c.1186G>A (p.Gly396Arg) rs138924201
NM_133497.4(KCNV2):c.1356+3_1356+6del rs748084580
NM_133497.4(KCNV2):c.308T>C (p.Val103Ala)
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser) rs1819778622
NM_133497.4(KCNV2):c.727C>T (p.Arg243Trp)
NM_133497.4(KCNV2):c.998G>T (p.Ser333Ile)
NM_138393.4(REEP6):c.217G>A (p.Ala73Thr) rs1169079754
NM_152269.5(MTRFR):c.433_457del (p.Ala145fs)
NM_152443.3(RDH12):c.144C>A (p.Asn48Lys)
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_172240.3(POC1B):c.2T>A (p.Met1Lys)
NM_174878.3(CLRN1):c.458T>G (p.Ile153Arg)
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2087G>C (p.Cys696Ser)
NM_201253.3(CRB1):c.2168G>A (p.Gly723Asp)
NM_201253.3(CRB1):c.2249G>A (p.Gly750Asp)
NM_201253.3(CRB1):c.2308G>C (p.Gly770Arg)
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2984_2985del (p.Glu995fs)
NM_201253.3(CRB1):c.3008T>C (p.Ile1003Thr)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) rs2125500491
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser) rs62636291
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) rs62636291
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.601T>A (p.Cys201Ser)
NM_201548.5(CERKL):c.1388C>T (p.Thr463Ile)
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_206933.4(USH2A):c.10342G>C (p.Glu3448Gln)
NM_206933.4(USH2A):c.10480A>G (p.Thr3494Ala)
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) rs1571678968
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11007C>A (p.Ser3669Arg)
NM_206933.4(USH2A):c.11266G>A (p.Gly3756Ser)
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.13156A>T (p.Ile4386Phe)
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.1558T>C (p.Cys520Arg)
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_206933.4(USH2A):c.2072G>A (p.Cys691Tyr)
NM_206933.4(USH2A):c.2492del (p.Glu831fs)
NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly) rs794727135
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) rs150729680
NM_206933.4(USH2A):c.3551T>A (p.Leu1184Ter)
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg) rs2032221370
NM_206933.4(USH2A):c.4846C>T (p.Gln1616Ter)
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val) rs2032219588
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.5842C>A (p.Arg1948Ser)
NM_206933.4(USH2A):c.6082T>G (p.Tyr2028Asp)
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.848+1G>T rs2102658764
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) rs1246009294
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9884G>A (p.Cys3295Tyr) rs1662221668
NM_206933.4:c.(651+1_652-1)_(6163+1_6164-1)dup

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.