ClinVar Miner

List of variants studied for amino acid metabolism disease by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 225
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_016247.4(IMPG2):c.3023-6_3030dup rs754995805 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_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1A>G (p.Met1Val) rs781003757 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395 0.00002
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826 0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_000254.3(MTR):c.385G>C (p.Ala129Pro) rs1190777785 0.00001
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588 0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter) rs773278338 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter) rs567961453 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) rs776788104 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NC_000006.11:g.65133931_65156120dup
NC_000015.10:g.89206897_89214258del
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) rs1554268546
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs) rs1555964133
NM_001034853.2(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs) rs1555961849
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.779-3C>A rs1555965712
NM_001034853.2(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_001042432.2(CLN3):c.461-279_677+384del rs1555468632
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu) rs1554338016
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.782del (p.Asp261fs) rs1178184685
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) rs1555488573
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) rs1555488069
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) rs750620302
NM_001297.5(CNGB1):c.761+2T>A rs1555493707
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2569del (p.Arg857fs) rs1554671407
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) rs201644238
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) rs1554519533
NM_006269.2(RP1):c.2083del (p.Ile695fs) rs1554519538
NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) rs1554519546
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) rs1554519577
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.5883del (p.Thr1962fs) rs1554520068
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly) rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) rs1556318627
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_015629.4(PRPF31):c.1129del (p.Arg377fs) rs1555794302
NM_015629.4(PRPF31):c.1147-153_1196del rs1555794509
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) rs1555791188
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) rs1555793207
NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) rs1553687058
NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) rs1553681348
NM_016247.4(IMPG2):c.2928del (p.Asn976fs) rs770339774
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs) rs1555302710
NM_024649.5(BBS1):c.1713del (p.Gly572fs) rs1555050487
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) rs1477733493
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) rs1553260517
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.4(USH2A):c.8223+1G>C rs1553273280
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9259-503_9371+1650del
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
Single allele

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