ClinVar Miner

List of variants in gene SNTA1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.807T>C (p.Asn269=) rs73270015 0.02196
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_003098.3(SNTA1):c.828G>A (p.Lys276=) rs35938843 0.00969
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) rs75025585 0.00904
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser) rs573772189 0.00585
NM_003098.3(SNTA1):c.701+10G>A rs6057846 0.00419
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_003098.3(SNTA1):c.311-6G>C rs139532210 0.00201
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_003098.3(SNTA1):c.984C>T (p.Pro328=) rs138863915 0.00121
NM_003098.3(SNTA1):c.1488C>A (p.Ala496=) rs34901081 0.00106
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_003098.3(SNTA1):c.497-7C>T rs116972153 0.00063
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp) rs139537086 0.00044
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro) rs200316080 0.00041
NM_003098.3(SNTA1):c.210G>C (p.Pro70=) rs751651742 0.00039
NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr) rs34479952 0.00037
NM_003098.3(SNTA1):c.863C>A (p.Thr288Lys) rs750525497 0.00036
NM_003098.3(SNTA1):c.909+17G>T rs376695170 0.00021
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) rs144860423 0.00020
NM_003098.3(SNTA1):c.1080C>T (p.Tyr360=) rs141844806 0.00019
NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu) rs200865199 0.00019
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932 0.00017
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala) rs142978180 0.00017
NM_003098.3(SNTA1):c.1032C>T (p.Ile344=) rs541665582 0.00015
NM_003098.3(SNTA1):c.311-20C>T rs200764326 0.00013
NM_003098.3(SNTA1):c.1425+18del rs746145193 0.00012
NM_003098.3(SNTA1):c.815C>T (p.Thr272Met) rs144465646 0.00011
NM_003098.3(SNTA1):c.1377C>T (p.Asp459=) rs146134721 0.00009
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) rs370531842 0.00007
NM_003098.3(SNTA1):c.692C>T (p.Pro231Leu) rs559396761 0.00007
NM_003098.3(SNTA1):c.1147G>A (p.Val383Met) rs767361112 0.00006
NM_003098.3(SNTA1):c.1238-14T>C rs369876616 0.00006
NM_003098.3(SNTA1):c.1281C>T (p.Ile427=) rs761116006 0.00006
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp) rs530603992 0.00006
NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys) rs138164106 0.00005
NM_003098.3(SNTA1):c.162C>T (p.Gly54=) rs544127915 0.00005
NM_003098.3(SNTA1):c.782C>T (p.Ala261Val) rs139467962 0.00005
NM_003098.3(SNTA1):c.821G>A (p.Arg274Gln) rs137986136 0.00005
NM_003098.3(SNTA1):c.926C>T (p.Thr309Ile) rs200709948 0.00005
NM_003098.3(SNTA1):c.1007G>A (p.Arg336Gln) rs149126874 0.00004
NM_003098.3(SNTA1):c.1033G>A (p.Ala345Thr) rs150474420 0.00004
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=) rs774320273 0.00004
NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys) rs567451585 0.00004
NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln) rs752729935 0.00004
NM_003098.3(SNTA1):c.227A>G (p.Gln76Arg) rs929041171 0.00004
NM_003098.3(SNTA1):c.339C>G (p.Leu113=) rs746780665 0.00004
NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) rs199964677 0.00004
NM_003098.3(SNTA1):c.447T>C (p.Asp149=) rs760527177 0.00004
NM_003098.3(SNTA1):c.452C>T (p.Ala151Val) rs772936861 0.00004
NM_003098.3(SNTA1):c.513C>T (p.Asp171=) rs182320044 0.00004
NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser) rs200755101 0.00004
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp) rs201763667 0.00004
NM_003098.3(SNTA1):c.847T>C (p.Leu283=) rs754862058 0.00004
NM_003098.3(SNTA1):c.910C>T (p.Leu304=) rs141775350 0.00004
NM_003098.3(SNTA1):c.992G>A (p.Arg331His) rs575431717 0.00004
NM_003098.3(SNTA1):c.1238-11C>T rs779500941 0.00003
NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys) rs371648806 0.00003
NM_003098.3(SNTA1):c.1437G>A (p.Leu479=) rs780011608 0.00003
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) rs786205848 0.00003
NM_003098.3(SNTA1):c.233C>T (p.Pro78Leu) rs1241571413 0.00003
NM_003098.3(SNTA1):c.310+19G>A rs554224001 0.00003
NM_003098.3(SNTA1):c.551C>T (p.Ser184Leu) rs753294770 0.00003
NM_003098.3(SNTA1):c.776C>T (p.Ser259Leu) rs774643587 0.00003
NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) rs750459988 0.00003
NM_003098.3(SNTA1):c.1106G>A (p.Arg369His) rs1012069434 0.00002
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) rs373387978 0.00002
NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) rs771369802 0.00002
NM_003098.3(SNTA1):c.1209C>T (p.Ala403=) rs144821472 0.00002
NM_003098.3(SNTA1):c.1212C>T (p.Ala404=) rs754521867 0.00002
NM_003098.3(SNTA1):c.1300T>C (p.Trp434Arg) rs772600822 0.00002
NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg) rs188835994 0.00002
NM_003098.3(SNTA1):c.1440C>T (p.His480=) rs201485963 0.00002
NM_003098.3(SNTA1):c.1479C>T (p.Phe493=) rs559827815 0.00002
NM_003098.3(SNTA1):c.522G>A (p.Pro174=) rs780808390 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_003098.3(SNTA1):c.702-7C>G rs780688953 0.00002
NM_003098.3(SNTA1):c.905A>G (p.Glu302Gly) rs763371307 0.00002
NM_003098.3(SNTA1):c.972C>T (p.Tyr324=) rs761467167 0.00002
NM_003098.3(SNTA1):c.1006C>T (p.Arg336Trp) rs747104878 0.00001
NM_003098.3(SNTA1):c.1011A>G (p.Pro337=) rs758676160 0.00001
NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr) rs754242619 0.00001
NM_003098.3(SNTA1):c.1065G>T (p.Lys355Asn) rs1989709760 0.00001
NM_003098.3(SNTA1):c.1104G>A (p.Leu368=) rs758435546 0.00001
NM_003098.3(SNTA1):c.1151A>G (p.Glu384Gly) rs1365956176 0.00001
NM_003098.3(SNTA1):c.1162G>A (p.Glu388Lys) rs570991600 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_003098.3(SNTA1):c.1238-3C>T rs1366644642 0.00001
NM_003098.3(SNTA1):c.1245G>A (p.Thr415=) rs780680201 0.00001
NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys) rs375515058 0.00001
NM_003098.3(SNTA1):c.1279A>G (p.Ile427Val) rs151158866 0.00001
NM_003098.3(SNTA1):c.1304C>T (p.Ala435Val) rs1030135305 0.00001
NM_003098.3(SNTA1):c.1325G>A (p.Arg442Gln) rs746800138 0.00001
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter) rs1187536758 0.00001
NM_003098.3(SNTA1):c.1378G>A (p.Gly460Ser) rs368660364 0.00001
NM_003098.3(SNTA1):c.1386T>C (p.Ser462=) rs1335638175 0.00001
NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu) rs144006909 0.00001
NM_003098.3(SNTA1):c.1485G>A (p.Ser495=) rs374100952 0.00001
NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro) rs1463586615 0.00001
NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) rs768377696 0.00001
NM_003098.3(SNTA1):c.173A>G (p.Glu58Gly) rs555231776 0.00001
NM_003098.3(SNTA1):c.198C>A (p.Gly66=) rs1335292078 0.00001
NM_003098.3(SNTA1):c.200C>T (p.Ala67Val) rs536755693 0.00001
NM_003098.3(SNTA1):c.316C>T (p.Arg106Trp) rs552509775 0.00001
NM_003098.3(SNTA1):c.344C>A (p.Ser115Tyr) rs1359697782 0.00001
NM_003098.3(SNTA1):c.354C>T (p.Phe118=) rs1178809115 0.00001
NM_003098.3(SNTA1):c.375G>C (p.Gln125His) rs201421292 0.00001
NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) rs756587722 0.00001
NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala) rs768194552 0.00001
NM_003098.3(SNTA1):c.441C>T (p.Thr147=) rs1421000101 0.00001
NM_003098.3(SNTA1):c.497-5A>G rs202178576 0.00001
NM_003098.3(SNTA1):c.514G>A (p.Val172Ile) rs775580363 0.00001
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) rs781703999 0.00001
NM_003098.3(SNTA1):c.544G>A (p.Gly182Arg) rs201405395 0.00001
NM_003098.3(SNTA1):c.630C>T (p.Ser210=) rs747390007 0.00001
NM_003098.3(SNTA1):c.719C>T (p.Ser240Leu) rs35168199 0.00001
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) rs759487225 0.00001
NM_003098.3(SNTA1):c.766A>T (p.Ser256Cys) rs192115867 0.00001
NM_003098.3(SNTA1):c.773G>A (p.Arg258Lys) rs776064801 0.00001
NM_003098.3(SNTA1):c.816G>A (p.Thr272=) rs371028127 0.00001
NM_003098.3(SNTA1):c.837G>A (p.Leu279=) rs746607636 0.00001
NM_003098.3(SNTA1):c.955A>G (p.Lys319Glu) rs766990229 0.00001
NM_003098.3(SNTA1):c.991C>T (p.Arg331Cys) rs769528459 0.00001
NC_000020.10:g.(?_31996313)_(32026852_?)dup
NC_000020.10:g.(?_32026637)_(32031436_?)dup
NM_003098.3(SNTA1):c.1003_1021dup (p.Ala341fs) rs775891730
NM_003098.3(SNTA1):c.1004G>A (p.Ser335Asn) rs1425754256
NM_003098.3(SNTA1):c.1016G>A (p.Arg339His)
NM_003098.3(SNTA1):c.1038C>T (p.Thr346=) rs763466091
NM_003098.3(SNTA1):c.1040+11G>A
NM_003098.3(SNTA1):c.1041-11C>G
NM_003098.3(SNTA1):c.1047G>A (p.Val349=) rs954667824
NM_003098.3(SNTA1):c.1047G>C (p.Val349=)
NM_003098.3(SNTA1):c.1053A>G (p.Ser351=) rs1555816772
NM_003098.3(SNTA1):c.1055G>A (p.Gly352Asp) rs2146757905
NM_003098.3(SNTA1):c.1061C>A (p.Ser354Tyr) rs1200381592
NM_003098.3(SNTA1):c.1087G>A (p.Glu363Lys) rs749476668
NM_003098.3(SNTA1):c.1100C>G (p.Ala367Gly) rs2146757757
NM_003098.3(SNTA1):c.1103T>C (p.Leu368Pro) rs1060503675
NM_003098.3(SNTA1):c.1109C>A (p.Thr370Lys)
NM_003098.3(SNTA1):c.1117C>T (p.Arg373Cys)
NM_003098.3(SNTA1):c.1122C>T (p.His374=)
NM_003098.3(SNTA1):c.1123G>A (p.Gly375Ser)
NM_003098.3(SNTA1):c.1127T>C (p.Val376Ala) rs1283111325
NM_003098.3(SNTA1):c.1133C>T (p.Thr378Ile)
NM_003098.3(SNTA1):c.1158G>T (p.Pro386=) rs774320273
NM_003098.3(SNTA1):c.1164G>A (p.Glu388=)
NM_003098.3(SNTA1):c.1168G>C (p.Ala390Pro) rs1568746798
NM_003098.3(SNTA1):c.1181G>T (p.Arg394Leu) rs750278583
NM_003098.3(SNTA1):c.1191G>C (p.Val397=) rs1555816721
NM_003098.3(SNTA1):c.1197C>T (p.Gly399=)
NM_003098.3(SNTA1):c.1237+20G>A rs1989701964
NM_003098.3(SNTA1):c.1237G>A (p.Ala413Thr) rs1989702879
NM_003098.3(SNTA1):c.1238-13G>C rs748801869
NM_003098.3(SNTA1):c.1238-9dup
NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) rs533902889
NM_003098.3(SNTA1):c.1269G>A (p.Leu423=)
NM_003098.3(SNTA1):c.1281C>G (p.Ile427Met)
NM_003098.3(SNTA1):c.1283A>G (p.Asp428Gly) rs1390997295
NM_003098.3(SNTA1):c.1287G>C (p.Lys429Asn) rs955414123
NM_003098.3(SNTA1):c.1300_1301del (p.Trp434fs) rs1273480938
NM_003098.3(SNTA1):c.1330G>A (p.Val444Met) rs201571071
NM_003098.3(SNTA1):c.1338G>A (p.Leu446=)
NM_003098.3(SNTA1):c.1345C>T (p.Pro449Ser)
NM_003098.3(SNTA1):c.1361A>G (p.Gln454Arg)
NM_003098.3(SNTA1):c.1382C>T (p.Ala461Val)
NM_003098.3(SNTA1):c.1419C>T (p.Gly473=)
NM_003098.3(SNTA1):c.1425+15G>A
NM_003098.3(SNTA1):c.1425+1G>T rs113809208
NM_003098.3(SNTA1):c.1428G>A (p.Gln476=) rs1060504991
NM_003098.3(SNTA1):c.1436T>C (p.Leu479Pro) rs978530002
NM_003098.3(SNTA1):c.1443G>A (p.Ser481=)
NM_003098.3(SNTA1):c.1471C>T (p.His491Tyr)
NM_003098.3(SNTA1):c.1480C>T (p.Leu494=) rs763351253
NM_003098.3(SNTA1):c.1482G>T (p.Leu494=)
NM_003098.3(SNTA1):c.1484C>A (p.Ser495Ter)
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003098.3(SNTA1):c.1505G>C (p.Gly502Ala) rs1989651824
NM_003098.3(SNTA1):c.150T>G (p.Gly50=)
NM_003098.3(SNTA1):c.1518G>T (p.Ter506Tyr) rs1568745550
NM_003098.3(SNTA1):c.157C>G (p.Pro53Ala)
NM_003098.3(SNTA1):c.157C>T (p.Pro53Ser)
NM_003098.3(SNTA1):c.168G>T (p.Pro56=)
NM_003098.3(SNTA1):c.180G>A (p.Glu60=)
NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu) rs1990630503
NM_003098.3(SNTA1):c.201C>G (p.Ala67=)
NM_003098.3(SNTA1):c.203_204delinsTA (p.Ala68Val) rs1990629807
NM_003098.3(SNTA1):c.210G>T (p.Pro70=) rs751651742
NM_003098.3(SNTA1):c.213C>G (p.Gly71=) rs1374381593
NM_003098.3(SNTA1):c.220C>T (p.Pro74Ser)
NM_003098.3(SNTA1):c.222C>G (p.Pro74=) rs752864338
NM_003098.3(SNTA1):c.225G>A (p.Pro75=) rs2146814729
NM_003098.3(SNTA1):c.240G>A (p.Ala80=) rs765352601
NM_003098.3(SNTA1):c.240G>T (p.Ala80=) rs765352601
NM_003098.3(SNTA1):c.242T>C (p.Leu81Pro) rs2146814680
NM_003098.3(SNTA1):c.250C>T (p.Gln84Ter) rs786205842
NM_003098.3(SNTA1):c.310+10G>C
NM_003098.3(SNTA1):c.310+12_310+27del rs1441274981
NM_003098.3(SNTA1):c.310+17G>A
NM_003098.3(SNTA1):c.311-16T>G rs998028927
NM_003098.3(SNTA1):c.311-3C>T rs773906766
NM_003098.3(SNTA1):c.311-6G>A rs139532210
NM_003098.3(SNTA1):c.312C>T (p.Gly104=) rs533476140
NM_003098.3(SNTA1):c.313G>A (p.Gly105Ser)
NM_003098.3(SNTA1):c.317G>C (p.Arg106Pro) rs75025585
NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)
NM_003098.3(SNTA1):c.349A>G (p.Ile117Val) rs2146808266
NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn) rs1430826527
NM_003098.3(SNTA1):c.390T>C (p.Phe130=) rs2146808171
NM_003098.3(SNTA1):c.414G>T (p.Val138=)
NM_003098.3(SNTA1):c.440C>T (p.Thr147Ile)
NM_003098.3(SNTA1):c.496+12C>T
NM_003098.3(SNTA1):c.496+13G>A
NM_003098.3(SNTA1):c.497-14TC[4] rs752630265
NM_003098.3(SNTA1):c.502T>C (p.Tyr168His)
NM_003098.3(SNTA1):c.506T>G (p.Met169Arg) rs2146773187
NM_003098.3(SNTA1):c.562G>T (p.Asp188Tyr) rs750125166
NM_003098.3(SNTA1):c.567A>T (p.Ser189=) rs552315106
NM_003098.3(SNTA1):c.571C>T (p.Pro191Ser)
NM_003098.3(SNTA1):c.582C>T (p.Pro194=)
NM_003098.3(SNTA1):c.602C>T (p.Ser201Phe)
NM_003098.3(SNTA1):c.616C>T (p.Pro206Ser)
NM_003098.3(SNTA1):c.649T>C (p.Leu217=) rs1555818113
NM_003098.3(SNTA1):c.659C>T (p.Ala220Val) rs1989910947
NM_003098.3(SNTA1):c.669G>A (p.Ser223=) rs199762207
NM_003098.3(SNTA1):c.684C>T (p.Pro228=)
NM_003098.3(SNTA1):c.699C>T (p.Pro233=)
NM_003098.3(SNTA1):c.701+10G>C
NM_003098.3(SNTA1):c.702-13T>A
NM_003098.3(SNTA1):c.702-13T>C
NM_003098.3(SNTA1):c.702-1G>A rs2146763231
NM_003098.3(SNTA1):c.702-3C>T
NM_003098.3(SNTA1):c.702-7C>A rs780688953
NM_003098.3(SNTA1):c.702-8G>A
NM_003098.3(SNTA1):c.725A>G (p.Asp242Gly)
NM_003098.3(SNTA1):c.750G>A (p.Arg250=) rs1014697667
NM_003098.3(SNTA1):c.756G>A (p.Lys252=)
NM_003098.3(SNTA1):c.761A>G (p.Glu254Gly)
NM_003098.3(SNTA1):c.763G>C (p.Ala255Pro) rs1057524281
NM_003098.3(SNTA1):c.771G>A (p.Ala257=) rs113412654
NM_003098.3(SNTA1):c.775T>G (p.Ser259Ala)
NM_003098.3(SNTA1):c.776C>A (p.Ser259Ter)
NM_003098.3(SNTA1):c.781G>A (p.Ala261Thr)
NM_003098.3(SNTA1):c.783G>A (p.Ala261=)
NM_003098.3(SNTA1):c.794A>G (p.Gln265Arg)
NM_003098.3(SNTA1):c.798C>T (p.Ala266=)
NM_003098.3(SNTA1):c.808A>G (p.Thr270Ala)
NM_003098.3(SNTA1):c.809C>T (p.Thr270Ile)
NM_003098.3(SNTA1):c.822G>A (p.Arg274=)
NM_003098.3(SNTA1):c.826A>C (p.Lys276Gln) rs1489981173
NM_003098.3(SNTA1):c.840G>A (p.Gln280=)
NM_003098.3(SNTA1):c.860G>A (p.Ser287Asn) rs780098159
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
NM_003098.3(SNTA1):c.890T>C (p.Ile297Thr) rs2146762566
NM_003098.3(SNTA1):c.910-3C>T rs1989763108
NM_003098.3(SNTA1):c.910-9del
NM_003098.3(SNTA1):c.920G>C (p.Gly307Ala)
NM_003098.3(SNTA1):c.923G>A (p.Gly308Asp)
NM_003098.3(SNTA1):c.939G>T (p.Leu313=) rs1181358730
NM_003098.3(SNTA1):c.969C>T (p.Leu323=)
NM_003098.3(SNTA1):c.975G>A (p.Leu325=)
NM_003098.3(SNTA1):c.979C>G (p.Leu327Val)
NM_003098.3(SNTA1):c.979C>T (p.Leu327Phe) rs1989760531
NM_003098.3(SNTA1):c.981C>T (p.Leu327=)
NM_003098.3(SNTA1):c.984C>G (p.Pro328=) rs138863915
NM_003098.3(SNTA1):c.989C>T (p.Thr330Ile)
NM_003098.3(SNTA1):c.994G>A (p.Glu332Lys)

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