ClinVar Miner

List of variants studied for amino acid metabolism disease by Sharon lab, Hadassah-Hebrew University Medical Center

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) rs200963831 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016 0.00004
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_001793.6(CDH3):c.2200G>A (p.Val734Met) rs775541873 0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) rs377600857 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) rs387907268 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001242957.3(MAK):c.497G>A (p.Arg166His) rs387906648 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.2506+1G>A rs1561671507 0.00001
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025 0.00001
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001370348.2(PHF3):c.*8063_*8068del rs1296130120 0.00001
NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter) rs1588391640 0.00001
NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter) rs137853041 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys) rs1594214013 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp) rs760942217 0.00001
NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr) rs1293620319 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_201548.5(CERKL):c.238+1G>A rs1276597208 0.00001
NM_201548.5(CERKL):c.2T>G (p.Met1Arg) rs1187991259 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NC_000006.11:g.64666416_66194230del
NC_000006.11:g.65376653_65743428del
NC_000006.12:g.64349976_64426764del
NC_000012.12:g.1839550_1875411del
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_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.900+1G>A rs1589700702
NM_000283.4(PDE6B):c.1417del (p.Leu473fs) rs1577288305
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp) rs759382635
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.612C>G (p.Tyr204Ter) rs1554269081
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.808CTC[1] (p.Leu271del) rs1582764519
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000329.3(RPE65):c.722A>T (p.His241Leu) rs1557600322
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs) rs1571257937
NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) rs1571253050
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) rs1581166539
NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs) rs1581164936
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs) rs1581217626
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.403C>T (p.Arg135Trp) rs104893775
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.548_638dup (p.Ile214fs) rs1578280574
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) rs1584728115
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter) rs398123044
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter) rs1601940608
NM_001034853.2(RPGR):c.1572+1G>A rs1601931052
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs) rs1601923578
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter) rs1601923388
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter) rs1601978991
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs) rs1601920599
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2797del (p.Glu933fs) rs1346308311
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.897dup (p.Ile300fs) rs1601951704
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del) rs747069281
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter) rs1582932583
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.8105del (p.Asn2702fs) rs1582146096
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter) rs1168129071
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs) rs1582139308
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) rs1582139184
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs) rs1589313739
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys) rs1572875669
NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs) rs1581727126
NM_001256789.3(CACNA1F):c.1015-2A>G rs1602653110
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.1114C>G (p.Pro372Ala) rs1464167194
NM_001330691.3(CEP78):c.534del (p.Lys179fs) rs1057517695
NM_001330691.3(CEP78):c.893-1G>A rs1057517694
NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs) rs1594246708
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys) rs1578059695
NM_001379270.1(CNGA1):c.305del (p.Lys102fs) rs1560621807
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_002602.4(PDE6G):c.187+1G>T rs1598717056
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) rs1588865728
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys) rs1581738478
NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser) rs1588350497
NM_003816.3(ADAM9):c.411-8A>G rs786205086
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004928.3(CFAP410):c.364G>A (p.Asp122Asn) rs1602079250
NM_004928.3(CFAP410):c.643-1G>C rs1602071514
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs) rs1587620892
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter) rs1585563328
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122
NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del) rs1176869304
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006915.3(RP2):c.102+1G>T rs1602342663
NM_006915.3(RP2):c.25_28del (p.Lys10fs) rs1602342597
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_006915.3(RP2):c.328T>C (p.Cys110Arg) rs1602347741
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.364del (p.Cys122fs) rs1602347786
NM_006915.3(RP2):c.530_531del (p.Phe177fs) rs1602347851
NM_012106.4(ARL2BP):c.101-1G>C rs879255568
NM_012106.4(ARL2BP):c.38+2T>G rs1597951232
NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del) rs747812103
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.1038G>C (p.Gln346His) rs1595957521
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.352G>A (p.Val118Met) rs776270511
NM_014336.5(AIPL1):c.99del (p.Ile34fs) rs1597340989
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_015072.5(TTLL5):c.2136+1G>A rs1595009158
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) rs1184467860
NM_015629.4(PRPF31):c.689del (p.Lys230fs) rs1600342032
NM_015629.4(PRPF31):c.697+1G>A rs1600342050
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter) rs267606874
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) rs1371805993
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs) rs1594224781
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs) rs1594280914
NM_021831.6(AGBL5):c.1787_1788del (p.His596fs) rs1285501658
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1485+2T>G rs767366723
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu) rs794726954
NM_144499.3(GNAT1):c.8del (p.Ala3fs) rs1575415957
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.821T>C (p.Leu274Pro) rs1594867597
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg) rs387907137
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) rs1571524269
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) rs760544654
NM_201253.3(CRB1):c.424G>T (p.Gly142Ter) rs1571848659
NM_201548.5(CERKL):c.450_451del (p.Ile150fs) rs1574489337
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796

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.