ClinVar Miner

List of variants reported as uncertain significance for Achromatopsia

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly) rs148661165 0.00218
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229 0.00217
NM_006204.4(PDE6C):c.864+13C>T rs199559247 0.00216
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_019098.5(CNGB3):c.1732A>T (p.Thr578Ser) rs145247723 0.00145
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107 0.00124
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser) rs139456217 0.00121
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926 0.00104
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser) rs145591492 0.00081
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met) rs41290222 0.00038
NM_006204.4(PDE6C):c.1935+13C>T rs199704992 0.00036
NM_006204.4(PDE6C):c.792G>A (p.Ala264=) rs375235184 0.00034
NM_006204.4(PDE6C):c.*247A>C rs563701427 0.00031
NM_019098.5(CNGB3):c.1117T>C (p.Trp373Arg) rs145619853 0.00023
NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala) rs139368657 0.00022
NM_006204.4(PDE6C):c.*235A>T rs543722110 0.00021
NM_006204.4(PDE6C):c.2144+15T>C rs201956926 0.00019
NM_006204.4(PDE6C):c.939+4C>T rs371814026 0.00019
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter) rs151039691 0.00019
NM_019098.5(CNGB3):c.1204G>T (p.Val402Phe) rs139825253 0.00018
NM_019098.5(CNGB3):c.1178+6T>C rs151236891 0.00017
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451 0.00015
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp) rs201770811 0.00014
NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr) rs192568942 0.00011
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) rs377730576 0.00011
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079 0.00010
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln) rs369526115 0.00010
NM_019098.5(CNGB3):c.1367G>A (p.Arg456His) rs150650617 0.00009
NM_019098.5(CNGB3):c.1982_1984dup (p.Asp661_Leu662insHis) rs780866922 0.00009
NM_019098.5(CNGB3):c.419G>A (p.Arg140His) rs373216514 0.00009
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met) rs755130011 0.00009
NM_006204.4(PDE6C):c.1935+4C>T rs373290960 0.00008
NM_019098.5(CNGB3):c.1376T>C (p.Met459Thr) rs375886578 0.00008
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012 0.00007
NM_019098.5(CNGB3):c.613A>C (p.Lys205Gln) rs760767009 0.00007
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) rs774245507 0.00006
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) rs554790963 0.00006
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345 0.00006
NM_006204.4(PDE6C):c.537G>T (p.Leu179=) rs752478645 0.00006
NM_006204.4(PDE6C):c.873C>T (p.Tyr291=) rs138970846 0.00006
NM_019098.5(CNGB3):c.115C>A (p.Gln39Lys) rs375530321 0.00006
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676 0.00006
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly) rs781481819 0.00006
NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr) rs371424750 0.00005
NM_019098.5(CNGB3):c.206T>C (p.Ile69Thr) rs777636370 0.00005
NM_019098.5(CNGB3):c.2342G>A (p.Arg781His) rs772444831 0.00005
NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys) rs759770735 0.00005
NM_006204.4(PDE6C):c.-21C>T rs374900090 0.00004
NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys) rs757099539 0.00004
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val) rs140932384 0.00004
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465 0.00004
NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe) rs201881873 0.00004
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr) rs150490913 0.00004
NM_001298.2(CNGA3):c.-287C>T rs775933048 0.00003
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663 0.00003
NM_006204.4(PDE6C):c.1120-6T>C rs202031903 0.00003
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) rs779174659 0.00003
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181 0.00003
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) rs200939953 0.00003
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) rs758391651 0.00003
NM_019098.5(CNGB3):c.129G>C (p.Gln43His) rs773587353 0.00003
NM_019098.5(CNGB3):c.1738G>A (p.Val580Ile) rs1256886489 0.00003
NM_019098.5(CNGB3):c.1829C>T (p.Ala610Val) rs201093395 0.00003
NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp) rs201675902 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_019098.5(CNGB3):c.489A>T (p.Gln163His) rs752150266 0.00003
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171 0.00002
NM_006204.4(PDE6C):c.558G>A (p.Val186=) rs200979646 0.00002
NM_019098.5(CNGB3):c.1126A>G (p.Asn376Asp) rs754937899 0.00002
NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe) rs762689312 0.00002
NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr) rs758659088 0.00002
NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys) rs777404947 0.00002
NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile) rs1027900338 0.00002
NM_006204.4(PDE6C):c.*87C>T rs540915530 0.00001
NM_006204.4(PDE6C):c.1072-8C>T rs781649493 0.00001
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser) rs762249684 0.00001
NM_006204.4(PDE6C):c.1482+9T>C rs201702907 0.00001
NM_006204.4(PDE6C):c.1557C>T (p.His519=) rs762809900 0.00001
NM_006204.4(PDE6C):c.2037-13G>C rs765202218 0.00001
NM_006204.4(PDE6C):c.2304A>G (p.Lys768=) rs768365686 0.00001
NM_006204.4(PDE6C):c.306G>A (p.Arg102=) rs545034158 0.00001
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) rs201231586 0.00001
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854 0.00001
NM_019098.5(CNGB3):c.1052A>G (p.Tyr351Cys) rs777359145 0.00001
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160 0.00001
NM_019098.5(CNGB3):c.1422T>C (p.Leu474=) rs908750016 0.00001
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) rs751667290 0.00001
NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr) rs367652647 0.00001
NM_019098.5(CNGB3):c.1775A>G (p.Glu592Gly) rs566844518 0.00001
NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser) rs780344162 0.00001
NM_019098.5(CNGB3):c.1856T>C (p.Leu619Pro) rs1358482909 0.00001
NM_019098.5(CNGB3):c.2050G>A (p.Gly684Arg) rs1488638223 0.00001
NM_019098.5(CNGB3):c.2103+4A>G rs762261801 0.00001
NM_019098.5(CNGB3):c.2180A>G (p.Gln727Arg) rs758606162 0.00001
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn) rs148834016 0.00001
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly) rs1165080500 0.00001
NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn) rs769966310 0.00001
NM_019098.5(CNGB3):c.468C>T (p.Ser156=) rs1442224621 0.00001
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro) rs752920111 0.00001
NM_019098.5(CNGB3):c.768G>A (p.Ala256=) rs767128005 0.00001
NM_019098.5(CNGB3):c.818C>T (p.Pro273Leu) rs1466687341 0.00001
NM_019098.5(CNGB3):c.82G>A (p.Glu28Lys) rs752910520 0.00001
NM_019098.5(CNGB3):c.831T>G (p.Phe277Leu) rs1420784567 0.00001
NM_019098.5(CNGB3):c.853G>A (p.Val285Met) rs1042970165 0.00001
NM_001298.3(CNGA3):c.*1209del rs886056494
NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)
NM_001298.3(CNGA3):c.796G>A (p.Val266Met) rs536335712
NM_006204.4(PDE6C):c.*64A>C rs1781280550
NM_006204.4(PDE6C):c.-7C>A rs2058397201
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) rs777483878
NM_006204.4(PDE6C):c.1308T>G (p.Thr436=) rs2058524276
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp) rs2058552494
NM_006204.4(PDE6C):c.1630-4T>C rs368331638
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) rs1554892155
NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys) rs2058668455
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr) rs1554892197
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly) rs1554892199
NM_006204.4(PDE6C):c.2367G>A (p.Lys789=) rs2058671471
NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu) rs768171384
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.669C>T (p.Ile223=) rs2058442754
NM_006204.4(PDE6C):c.939+9A>G rs886047482
NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser) rs548817727
NM_019098.5(CNGB3):c.1178+9T>C rs549858104
NM_019098.5(CNGB3):c.1193A>G (p.Tyr398Cys) rs564759960
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) rs768959472
NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn) rs148572872
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu) rs748785588
NM_019098.5(CNGB3):c.212-6del rs745969238
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[3] (p.720QKENEDK[3]) rs746549330
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) rs758914061
NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser) rs375288585
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu) rs755429797
NM_019098.5(CNGB3):c.494-8dup rs763273522
NM_019098.5(CNGB3):c.715C>A (p.Arg239Ser) rs200019416
NM_019098.5(CNGB3):c.74G>A (p.Arg25His) rs141098074
NM_019098.5(CNGB3):c.803T>C (p.Met268Thr) rs1440942177
NM_019098.5(CNGB3):c.910G>T (p.Val304Phe) rs1454679758
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968

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