ClinVar Miner

List of variants studied for Gaucher disease

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1225-34C>A rs3115534 0.94932
NM_000157.4(GBA1):c.454+47G>A rs2075569 0.41024
NM_000157.4(GBA1):c.1000-81A>C rs9628662 0.38778
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) rs150466109 0.02394
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_000157.4(GBA1):c.1092G>A (p.Gly364=) rs143222798 0.00497
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_000157.4(GBA1):c.1473C>T (p.Pro491=) rs149257166 0.00094
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649 0.00076
NM_000157.4(GBA1):c.474C>T (p.Ile158=) rs147411159 0.00057
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_002778.4(PSAP):c.-28A>C rs375720661 0.00028
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00022
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00019
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000157.4(GBA1):c.535G>C (p.Asp179His) rs147138516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00013
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_000157.4(GBA1):c.168C>T (p.Val56=) rs145773486 0.00011
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00006
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00005
NM_000157.4(GBA1):c.1455A>G (p.Ala485=) rs199928507 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_000157.4(GBA1):c.1447C>T (p.Leu483=) rs369966551 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000157.4(GBA1):c.497A>T (p.Asp166Val) rs79796061 0.00003
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.*9A>G rs376628499 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 0.00003
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg) rs746019841 0.00002
NM_000157.4(GBA1):c.689T>G (p.Val230Gly) rs381427 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser) rs535896234 0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.1049A>G (p.His350Arg) rs78198234 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe) rs868591897 0.00001
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp) rs121908308 0.00001
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe) rs760307559 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn) rs1553217009 0.00001
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn) rs1571966221 0.00001
NM_000157.4(GBA1):c.145G>A (p.Gly49Ser) rs760930573 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.171C>T (p.Cys57=) rs1671995080 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.34C>T (p.Pro12Ser) rs763770350 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu) rs773409311 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_000157.3(GBA1):c.[1197G>T];[1603C>T]
NM_000157.3(GBA1):c.[1448T>C];[167T>G]
NM_000157.3(GBA1):c.[1448T>C];[407C>T]
NM_000157.4(GBA1):c.*92G>A
NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer) rs1553217314
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val) rs78396650
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys) rs121908304
NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1077C>A (p.Ala359=) rs1671753933
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter) rs777383151
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly) rs121908306
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly) rs121908308
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val) rs878853315
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr) rs1392291885
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)
NM_000157.4(GBA1):c.1226A>C (p.Asn409Thr) rs76763715
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val) rs121908314
NM_000157.4(GBA1):c.1238A>C (p.His413Pro) rs911331923
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter) rs754743440
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn) rs1671712475
NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter) rs1671711470
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1265_1320del (p.Leu422fs) rs2148071537
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro) rs772548282
NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) rs149171124
NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu) rs76910485
NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter) rs1484043383
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)
NM_000157.4(GBA1):c.1309G>T (p.Val437Phe) rs121908310
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu) rs74598136
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) rs77369218
NM_000157.4(GBA1):c.1347G>C (p.Thr449=) rs750193229
NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter) rs1557901325
NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg) rs121908295
NM_000157.4(GBA1):c.1388+2T>C rs1571965880
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1389-33del rs1671680082
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser) rs878853320
NM_000157.4(GBA1):c.1439_1445del (p.Lys480fs) rs2148070579
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr) rs878853317
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn) rs779958429
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000157.4(GBA1):c.1503C>G (p.Asn501Lys) rs755265316
NM_000157.4(GBA1):c.1505+2T>A rs2148070287
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_000157.4(GBA1):c.1506-1G>A rs1571964338
NM_000157.4(GBA1):c.1548G>C (p.Val516=) rs1671659716
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) rs121908301
NM_000157.4(GBA1):c.1566C>T (p.Ile522=) rs1671657974
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter) rs1671655923
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.167T>A (p.Val56Asp) rs878853318
NM_000157.4(GBA1):c.175G>A (p.Ala59Thr) rs1671994799
NM_000157.4(GBA1):c.203del (p.Pro68fs) rs1170895261
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.256C>T (p.Arg86Ter) rs1671987417
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
NM_000157.4(GBA1):c.334C>T (p.Gln112Ter) rs1671974195
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.39del (p.Lys13fs)
NM_000157.4(GBA1):c.403_404del (p.Leu135fs) rs1671970302
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro) rs878853314
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg) rs794727708
NM_000157.4(GBA1):c.444del (p.Ser149fs)
NM_000157.4(GBA1):c.454+1G>A rs539166948
NM_000157.4(GBA1):c.455-7T>C rs1671901028
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser) rs121908299
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
NM_000157.4(GBA1):c.485T>C (p.Met162Thr) rs794727783
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000157.4(GBA1):c.509G>A (p.Arg170His) rs80356763
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn) rs1553217946
NM_000157.4(GBA1):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA1):c.538G>A (p.Asp180Asn)
NM_000157.4(GBA1):c.557del (p.Phe186fs) rs1671890998
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) rs121908297
NM_000157.4(GBA1):c.589-86A>G rs2974923
NM_000157.4(GBA1):c.630del (p.Val211fs) rs1553217879
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter) rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe) rs1671865905
NM_000157.4(GBA1):c.730T>C (p.Tyr244His) rs1671863930
NM_000157.4(GBA1):c.73del (p.Leu25fs) rs397518433
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000157.4(GBA1):c.763T>G (p.Phe255Val) rs121908303
NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)
NM_000157.4(GBA1):c.835C>G (p.Leu279Val) rs1057519020
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala) rs878853321
NM_000157.4(GBA1):c.870C>A (p.Phe290Leu) rs121908313
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter) rs1553217626
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu) rs1671825414
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr) rs1671824775
NM_000157.4(GBA1):c.898del (p.Ala300fs) rs2148075419
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala) rs770796008
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu) rs79215220
NM_000157.4(GBA1):c.914del (p.Pro305fs) rs1366567865
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn) rs74731340
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys) rs765633380
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu) rs121908298
NM_000157.4(GBA1):c.999+242C>A rs1571969643
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs) rs1553333346
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
NM_001005741.2(GBA1):c.[880T>G;1342G>C]
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*73C>T rs541692197
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1005+1G>A rs113365744
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) rs544300820
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) rs121918110
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) rs765744298
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) rs121918108
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) rs121918105
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) rs529719024
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) rs121918109
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) rs1554879741
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) rs121918106
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=) rs758321016

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