ClinVar Miner

List of variants in gene ABAT reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.*2884T>C rs10261 0.00480
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_020686.6(ABAT):c.*1814T>C rs41312250 0.00200
NM_020686.6(ABAT):c.-52G>T rs532269694 0.00198
NM_020686.6(ABAT):c.*1922G>A rs116752370 0.00161
NM_020686.6(ABAT):c.*1319C>G rs186937149 0.00138
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00116
NM_020686.6(ABAT):c.*1416T>A rs553436440 0.00104
NM_020686.6(ABAT):c.*435G>A rs572396439 0.00071
NM_020686.6(ABAT):c.109G>A (p.Val37Ile) rs140119176 0.00042
NM_020686.6(ABAT):c.*2070G>C rs150364609 0.00040
NM_020686.6(ABAT):c.*2276G>C rs552096436 0.00034
NM_020686.6(ABAT):c.-107G>A rs531589337 0.00026
NM_020686.6(ABAT):c.*1704G>C rs752676943 0.00021
NM_020686.6(ABAT):c.*1110A>C rs886052437 0.00019
NM_020686.6(ABAT):c.*2352G>C rs886052446 0.00019
NM_020686.6(ABAT):c.*2284A>C rs984367608 0.00018
NM_020686.6(ABAT):c.*1142G>T rs574524165 0.00017
NM_020686.6(ABAT):c.*1771C>G rs543197540 0.00016
NM_020686.6(ABAT):c.*283T>C rs142722977 0.00015
NM_020686.6(ABAT):c.1269+6A>G rs372790444 0.00012
NM_020686.6(ABAT):c.*2642T>G rs538092815 0.00011
NM_020686.6(ABAT):c.*2749T>C rs542532328 0.00011
NM_020686.6(ABAT):c.*2783G>A rs572474401 0.00011
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_020686.6(ABAT):c.1158G>A (p.Pro386=) rs374865268 0.00009
NM_020686.6(ABAT):c.1345A>G (p.Ile449Val) rs147782370 0.00009
NM_020686.6(ABAT):c.26G>A (p.Arg9His) rs531783337 0.00009
NM_020686.6(ABAT):c.*959T>A rs750089237 0.00008
NM_020686.6(ABAT):c.*2300G>A rs886052445 0.00007
NM_020686.6(ABAT):c.1430C>T (p.Thr477Met) rs778305265 0.00007
NM_020686.6(ABAT):c.864C>T (p.Ala288=) rs149855547 0.00007
NM_020686.6(ABAT):c.929G>A (p.Arg310Gln) rs778974775 0.00007
NM_020686.6(ABAT):c.*416C>T rs76000284 0.00006
NM_020686.6(ABAT):c.*717G>A rs563004736 0.00006
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln) rs187929750 0.00006
NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln) rs368127499 0.00006
NM_020686.6(ABAT):c.1282C>G (p.Gln428Glu) rs746205242 0.00006
NM_020686.6(ABAT):c.190A>G (p.Ile64Val) rs756209600 0.00006
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys) rs201701679 0.00006
NM_020686.6(ABAT):c.367-3C>T rs367740820 0.00006
NM_020686.6(ABAT):c.419T>C (p.Val140Ala) rs886052429 0.00006
NM_020686.6(ABAT):c.816+19G>A rs147226856 0.00006
NM_020686.6(ABAT):c.668-3C>T rs375716049 0.00005
NM_020686.6(ABAT):c.950G>A (p.Arg317Lys) rs768443644 0.00005
NM_020686.6(ABAT):c.*1907A>G rs886052442 0.00004
NM_020686.6(ABAT):c.*493C>T rs781153961 0.00004
NM_020686.6(ABAT):c.-127C>G rs937622924 0.00004
NM_020686.6(ABAT):c.1241C>T (p.Ala414Val) rs771801237 0.00004
NM_020686.6(ABAT):c.1307G>A (p.Arg436Gln) rs764665721 0.00004
NM_020686.6(ABAT):c.1387G>A (p.Val463Met) rs757912430 0.00004
NM_020686.6(ABAT):c.19G>A (p.Ala7Thr) rs141213694 0.00004
NM_020686.6(ABAT):c.316+3A>G rs376810382 0.00004
NM_020686.6(ABAT):c.370A>G (p.Met124Val) rs370414705 0.00004
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu) rs375337638 0.00004
NM_020686.6(ABAT):c.555G>A (p.Gly185=) rs147765799 0.00004
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp) rs757076760 0.00004
NM_020686.6(ABAT):c.*1826C>T rs886052441 0.00003
NM_020686.6(ABAT):c.*3059C>T rs886052449 0.00003
NM_020686.6(ABAT):c.1123-15C>T rs376574278 0.00003
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) rs775339966 0.00003
NM_020686.6(ABAT):c.1349G>A (p.Arg450Gln) rs374692453 0.00003
NM_020686.6(ABAT):c.168+13C>T rs759610129 0.00003
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr) rs150783272 0.00003
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser) rs141279192 0.00003
NM_020686.6(ABAT):c.56G>A (p.Arg19His) rs780368959 0.00003
NM_020686.6(ABAT):c.678G>A (p.Ala226=) rs112564762 0.00003
NM_020686.6(ABAT):c.708C>T (p.Ile236=) rs778110660 0.00003
NM_020686.6(ABAT):c.771G>C (p.Glu257Asp) rs369478103 0.00003
NM_020686.6(ABAT):c.857C>T (p.Thr286Met) rs778229930 0.00003
NM_020686.6(ABAT):c.*2794C>G rs886052447 0.00002
NM_020686.6(ABAT):c.*479C>T rs886052435 0.00002
NM_020686.6(ABAT):c.1054G>A (p.Val352Met) rs775462540 0.00002
NM_020686.6(ABAT):c.106G>A (p.Asp36Asn) rs766849835 0.00002
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln) rs745491786 0.00002
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr) rs750911984 0.00002
NM_020686.6(ABAT):c.486C>T (p.Ala162=) rs763045532 0.00002
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr) rs540071491 0.00002
NM_020686.6(ABAT):c.961T>C (p.Cys321Arg) rs1458922038 0.00002
NM_020686.6(ABAT):c.*1393C>T rs537653612 0.00001
NM_020686.6(ABAT):c.*1602G>A rs1477666290 0.00001
NM_020686.6(ABAT):c.*1861C>A rs549811316 0.00001
NM_020686.6(ABAT):c.*1862C>T rs1406159963 0.00001
NM_020686.6(ABAT):c.*2089G>A rs1166367154 0.00001
NM_020686.6(ABAT):c.*2193T>G rs1045051678 0.00001
NM_020686.6(ABAT):c.*2712T>C rs2060496519 0.00001
NM_020686.6(ABAT):c.*3020A>G rs886052448 0.00001
NM_020686.6(ABAT):c.*942C>T rs886052436 0.00001
NM_020686.6(ABAT):c.1018G>A (p.Ala340Thr) rs2060223213 0.00001
NM_020686.6(ABAT):c.1057A>G (p.Met353Val) rs760898650 0.00001
NM_020686.6(ABAT):c.1082C>G (p.Thr361Ser) rs774473099 0.00001
NM_020686.6(ABAT):c.110T>C (p.Val37Ala) rs373781844 0.00001
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp) rs1330995774 0.00001
NM_020686.6(ABAT):c.1130G>A (p.Arg377Gln) rs370489933 0.00001
NM_020686.6(ABAT):c.1207G>A (p.Asp403Asn) rs751974207 0.00001
NM_020686.6(ABAT):c.1239G>C (p.Lys413Asn) rs2060265382 0.00001
NM_020686.6(ABAT):c.1327G>A (p.Asp443Asn) rs750680169 0.00001
NM_020686.6(ABAT):c.1348C>T (p.Arg450Trp) rs748725086 0.00001
NM_020686.6(ABAT):c.1353T>A (p.Asn451Lys) rs778319783 0.00001
NM_020686.6(ABAT):c.1381+6G>A rs777241102 0.00001
NM_020686.6(ABAT):c.1412C>G (p.Ser471Cys) rs768495738 0.00001
NM_020686.6(ABAT):c.1424G>A (p.Arg475His) rs762137050 0.00001
NM_020686.6(ABAT):c.1429A>G (p.Thr477Ala) rs1292109941 0.00001
NM_020686.6(ABAT):c.1431G>A (p.Thr477=) rs573157071 0.00001
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu) rs903906856 0.00001
NM_020686.6(ABAT):c.168+3G>A rs1294985666 0.00001
NM_020686.6(ABAT):c.169-6C>T rs758166055 0.00001
NM_020686.6(ABAT):c.170A>C (p.Glu57Ala) rs539748102 0.00001
NM_020686.6(ABAT):c.205G>A (p.Glu69Lys) rs752701740 0.00001
NM_020686.6(ABAT):c.232G>A (p.Glu78Lys) rs565305929 0.00001
NM_020686.6(ABAT):c.279G>A (p.Met93Ile) rs1555490154 0.00001
NM_020686.6(ABAT):c.285T>C (p.Asp95=) rs917180192 0.00001
NM_020686.6(ABAT):c.365C>T (p.Ala122Val) rs761782312 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 0.00001
NM_020686.6(ABAT):c.451G>A (p.Ala151Thr) rs1210477111 0.00001
NM_020686.6(ABAT):c.482T>G (p.Met161Arg) rs1323737693 0.00001
NM_020686.6(ABAT):c.511G>A (p.Ala171Thr) rs903118661 0.00001
NM_020686.6(ABAT):c.531G>C (p.Met177Ile) rs779411867 0.00001
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp) rs746589996 0.00001
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg) rs144238624 0.00001
NM_020686.6(ABAT):c.587C>T (p.Thr196Met) rs546024063 0.00001
NM_020686.6(ABAT):c.58C>G (p.Leu20Val) rs747283357 0.00001
NM_020686.6(ABAT):c.592A>G (p.Met198Val) rs200207185 0.00001
NM_020686.6(ABAT):c.603+6T>G rs966081353 0.00001
NM_020686.6(ABAT):c.619G>A (p.Asp207Asn) rs772498753 0.00001
NM_020686.6(ABAT):c.626G>A (p.Ser209Asn) rs1457964207 0.00001
NM_020686.6(ABAT):c.64G>C (p.Val22Leu) rs762710511 0.00001
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser) rs1223056561 0.00001
NM_020686.6(ABAT):c.740C>T (p.Pro247Leu) rs776487124 0.00001
NM_020686.6(ABAT):c.770A>T (p.Glu257Val) rs1377874387 0.00001
NM_020686.6(ABAT):c.783G>C (p.Glu261Asp) rs777951918 0.00001
NM_020686.6(ABAT):c.803G>A (p.Arg268His) rs570490857 0.00001
NM_020686.6(ABAT):c.841C>T (p.Arg281Trp) rs755955325 0.00001
NM_020686.6(ABAT):c.874G>A (p.Val292Met) rs747354047 0.00001
NM_020686.6(ABAT):c.916G>A (p.Asp306Asn) rs544512086 0.00001
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr) rs201221998 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
NM_020686.6(ABAT):c.991G>A (p.Gly331Arg) rs1064796422 0.00001
NM_020686.6(ABAT):c.999C>T (p.Gly333=) rs1353981722 0.00001
GRCh37/hg19 16p13.2(chr16:8741774-8798255)x1
GRCh37/hg19 16p13.2(chr16:8766187-8822840)x3
GRCh37/hg19 16p13.2(chr16:8772316-8836090)x3
NC_000016.10:g.(?_8764059)_(8781430_?)dup
NC_000016.9:g.(?_8829577)_(8875307_?)dup
NC_000016.9:g.(?_8829597)_(8829676_?)dup
NC_000016.9:g.(?_8829597)_(8829686_?)dup
NC_000016.9:g.(?_8829597)_(8839975_?)dup
NC_000016.9:g.(?_8829597)_(8844416_?)dup
NC_000016.9:g.(?_8829597)_(8858707_?)dup
NC_000016.9:g.(?_8829597)_(8862850_?)dup
NC_000016.9:g.(?_8829597)_(8875287_?)dup
NC_000016.9:g.(?_8857906)_(8858707_?)del
NC_000016.9:g.(?_8857906)_(8862850_?)del
NC_000016.9:g.(?_8873316)_(8875287_?)dup
NM_020686.5(ABAT):c.-150C>A rs886052387
NM_020686.6(ABAT):c.*1051C>T rs1275277312
NM_020686.6(ABAT):c.*1193G>T rs755959210
NM_020686.6(ABAT):c.*1483G>T rs139932869
NM_020686.6(ABAT):c.*1515_*1516dup rs756127537
NM_020686.6(ABAT):c.*1516del rs756127537
NM_020686.6(ABAT):c.*1593T>C rs1061842
NM_020686.6(ABAT):c.*1698C>G rs2060477590
NM_020686.6(ABAT):c.*1965C>T rs553329538
NM_020686.6(ABAT):c.*1976C>A rs886052443
NM_020686.6(ABAT):c.*1988C>T rs886052444
NM_020686.6(ABAT):c.*2059C>A rs2060484570
NM_020686.6(ABAT):c.*2308A>G rs1039454012
NM_020686.6(ABAT):c.*259G>A rs886052433
NM_020686.6(ABAT):c.*2698C>G rs922229332
NM_020686.6(ABAT):c.*316A>C rs1596475891
NM_020686.6(ABAT):c.*426C>T rs2060446680
NM_020686.6(ABAT):c.*430C>T rs886052434
NM_020686.6(ABAT):c.*578G>A rs2060450686
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met) rs2060222738
NM_020686.6(ABAT):c.1027C>T (p.His343Tyr) rs1280175936
NM_020686.6(ABAT):c.102A>C (p.Lys34Asn)
NM_020686.6(ABAT):c.1033G>A (p.Gly345Ser)
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp) rs2142996825
NM_020686.6(ABAT):c.1036C>G (p.Leu346Val)
NM_020686.6(ABAT):c.1039G>A (p.Asp347Asn)
NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)
NM_020686.6(ABAT):c.1049C>A (p.Ala350Glu) rs2060224233
NM_020686.6(ABAT):c.1058T>G (p.Met353Arg) rs2060224524
NM_020686.6(ABAT):c.1075A>G (p.Met359Val) rs2060225110
NM_020686.6(ABAT):c.1080G>A (p.Met360Ile) rs2142996879
NM_020686.6(ABAT):c.108C>A (p.Asp36Glu) rs751650520
NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)
NM_020686.6(ABAT):c.110T>G (p.Val37Gly) rs373781844
NM_020686.6(ABAT):c.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1139A>G (p.Asn380Ser) rs1555493454
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) rs770156912
NM_020686.6(ABAT):c.1148T>A (p.Leu383Gln) rs2142998232
NM_020686.6(ABAT):c.1153G>T (p.Asp385Tyr) rs2142998238
NM_020686.6(ABAT):c.1155C>A (p.Asp385Glu) rs2142998239
NM_020686.6(ABAT):c.1163A>G (p.Lys388Arg)
NM_020686.6(ABAT):c.1168C>G (p.Leu390Val) rs537999087
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile) rs1390975236
NM_020686.6(ABAT):c.1192A>C (p.Ile398Leu) rs2060264213
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly) rs1395351659
NM_020686.6(ABAT):c.1232C>A (p.Ala411Asp)
NM_020686.6(ABAT):c.1238A>G (p.Lys413Arg)
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr) rs886052432
NM_020686.6(ABAT):c.1273C>T (p.Arg425Trp)
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu) rs368127499
NM_020686.6(ABAT):c.1287C>A (p.Phe429Leu) rs772526517
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
NM_020686.6(ABAT):c.1323del (p.Phe442fs) rs2060370206
NM_020686.6(ABAT):c.1324T>G (p.Phe442Val) rs2143002786
NM_020686.6(ABAT):c.1326C>A (p.Phe442Leu) rs201566019
NM_020686.6(ABAT):c.1327G>C (p.Asp443His)
NM_020686.6(ABAT):c.1333C>T (p.Pro445Ser) rs1345863425
NM_020686.6(ABAT):c.1336G>A (p.Asp446Asn)
NM_020686.6(ABAT):c.1354A>T (p.Lys452Ter) rs1596474539
NM_020686.6(ABAT):c.1356G>T (p.Lys452Asn) rs1219517329
NM_020686.6(ABAT):c.1363T>G (p.Leu455Val) rs1555493999
NM_020686.6(ABAT):c.1366A>G (p.Ile456Val) rs1485966037
NM_020686.6(ABAT):c.1367T>C (p.Ile456Thr)
NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)
NM_020686.6(ABAT):c.1370C>T (p.Ala457Val) rs769027199
NM_020686.6(ABAT):c.1381+1G>T
NM_020686.6(ABAT):c.1381+6G>T rs777241102
NM_020686.6(ABAT):c.1384G>A (p.Val462Met)
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) rs1057523345
NM_020686.6(ABAT):c.1407C>G (p.Asp469Glu)
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr) rs1596475613
NM_020686.6(ABAT):c.1417C>T (p.Arg473Cys)
NM_020686.6(ABAT):c.1421T>G (p.Phe474Cys) rs1280757572
NM_020686.6(ABAT):c.1423C>T (p.Arg475Cys)
NM_020686.6(ABAT):c.1435G>T (p.Val479Phe) rs1555494309
NM_020686.6(ABAT):c.143C>T (p.Thr48Met)
NM_020686.6(ABAT):c.1449C>A (p.His483Gln)
NM_020686.6(ABAT):c.1453G>A (p.Ala485Thr)
NM_020686.6(ABAT):c.1454C>G (p.Ala485Gly)
NM_020686.6(ABAT):c.1459C>G (p.Leu487Val)
NM_020686.6(ABAT):c.1492G>A (p.Asp498Asn)
NM_020686.6(ABAT):c.1498A>G (p.Lys500Glu)
NM_020686.6(ABAT):c.14T>G (p.Leu5Trp) rs1346245434
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?) rs756457894
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro) rs2059320233
NM_020686.6(ABAT):c.168+5G>T rs539641450
NM_020686.6(ABAT):c.168+6T>A rs2059320859
NM_020686.6(ABAT):c.169-5T>A
NM_020686.6(ABAT):c.199A>T (p.Asn67Tyr)
NM_020686.6(ABAT):c.1A>G (p.Met1Val) rs1160815812
NM_020686.6(ABAT):c.208G>T (p.Ala70Ser) rs540109350
NM_020686.6(ABAT):c.214C>A (p.His72Asn)
NM_020686.6(ABAT):c.224G>T (p.Cys75Phe)
NM_020686.6(ABAT):c.226A>G (p.Asn76Asp)
NM_020686.6(ABAT):c.236A>T (p.Glu79Val) rs1596454363
NM_020686.6(ABAT):c.307G>T (p.Val103Phe) rs2142726624
NM_020686.6(ABAT):c.314T>C (p.Ile105Thr) rs1596454443
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.323G>A (p.Ser108Asn)
NM_020686.6(ABAT):c.328C>T (p.Pro110Ser) rs2142848668
NM_020686.6(ABAT):c.332C>A (p.Ala111Asp) rs771274821
NM_020686.6(ABAT):c.366G>A (p.Ala122=) rs866554267
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu) rs1567293995
NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)
NM_020686.6(ABAT):c.437C>T (p.Ser146Phe)
NM_020686.6(ABAT):c.441G>C (p.Leu147Phe) rs747914194
NM_020686.6(ABAT):c.442C>T (p.Leu148Phe)
NM_020686.6(ABAT):c.446C>G (p.Ser149Trp) rs374113959
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu) rs374113959
NM_020686.6(ABAT):c.447G>A (p.Ser149=)
NM_020686.6(ABAT):c.447G>C (p.Ser149=) rs376531387
NM_020686.6(ABAT):c.447G>T (p.Ser149=) rs376531387
NM_020686.6(ABAT):c.448-18C>T rs2142927888
NM_020686.6(ABAT):c.458A>G (p.Lys153Arg) rs2142928367
NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)
NM_020686.6(ABAT):c.502A>G (p.Asn168Asp) rs1596464782
NM_020686.6(ABAT):c.503A>G (p.Asn168Ser) rs757056947
NM_020686.6(ABAT):c.531G>A (p.Met177Ile)
NM_020686.6(ABAT):c.535T>A (p.Tyr179Asn)
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln) rs776431473
NM_020686.6(ABAT):c.540+14CA[13] rs35745596
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.540+5G>T rs2059896686
NM_020686.6(ABAT):c.55C>A (p.Arg19Ser) rs77696190
NM_020686.6(ABAT):c.560G>C (p.Arg187Thr) rs1156477140
NM_020686.6(ABAT):c.563G>C (p.Gly188Ala)
NM_020686.6(ABAT):c.56G>T (p.Arg19Leu) rs780368959
NM_020686.6(ABAT):c.572A>T (p.Gln191Leu)
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln) rs1596465746
NM_020686.6(ABAT):c.589T>A (p.Cys197Ser) rs1567311566
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser) rs756890572
NM_020686.6(ABAT):c.616C>T (p.Pro206Ser) rs2142971411
NM_020686.6(ABAT):c.61C>G (p.Leu21Val)
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly) rs2060001644
NM_020686.6(ABAT):c.643G>A (p.Gly215Ser) rs762050203
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.645C>T (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.646G>A (p.Ala216Thr)
NM_020686.6(ABAT):c.64_66del (p.Val22del) rs1412155029
NM_020686.6(ABAT):c.65T>A (p.Val22Glu)
NM_020686.6(ABAT):c.665T>C (p.Met222Thr)
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252
NM_020686.6(ABAT):c.677C>G (p.Ala226Gly)
NM_020686.6(ABAT):c.677C>T (p.Ala226Val) rs372807667
NM_020686.6(ABAT):c.678G>C (p.Ala226=) rs112564762
NM_020686.6(ABAT):c.683C>T (p.Thr228Met) rs1174585175
NM_020686.6(ABAT):c.689C>G (p.Ser230Cys)
NM_020686.6(ABAT):c.68C>A (p.Pro23His) rs369376388
NM_020686.6(ABAT):c.693A>T (p.Lys231Asn)
NM_020686.6(ABAT):c.70+6C>A rs369944447
NM_020686.6(ABAT):c.706A>G (p.Ile236Val) rs2142977210
NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)
NM_020686.6(ABAT):c.731C>T (p.Pro244Leu)
NM_020686.6(ABAT):c.733A>G (p.Ile245Val)
NM_020686.6(ABAT):c.736G>A (p.Ala246Thr)
NM_020686.6(ABAT):c.736G>C (p.Ala246Pro) rs768632370
NM_020686.6(ABAT):c.748C>G (p.Arg250Gly)
NM_020686.6(ABAT):c.749G>A (p.Arg250Gln) rs375002262
NM_020686.6(ABAT):c.749G>T (p.Arg250Leu) rs375002262
NM_020686.6(ABAT):c.74C>G (p.Ser25Cys)
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu) rs2060022335
NM_020686.6(ABAT):c.772T>C (p.Phe258Leu) rs1179196079
NM_020686.6(ABAT):c.77G>C (p.Arg26Thr) rs2142623083
NM_020686.6(ABAT):c.79C>A (p.His27Asn)
NM_020686.6(ABAT):c.806G>A (p.Cys269Tyr)
NM_020686.6(ABAT):c.842G>A (p.Arg281Gln)
NM_020686.6(ABAT):c.844A>G (p.Lys282Glu) rs2142993736
NM_020686.6(ABAT):c.848AGA[2] (p.Lys285del) rs748632743
NM_020686.6(ABAT):c.866_874dup (p.Gly289_Ile291dup) rs2060152853
NM_020686.6(ABAT):c.871A>G (p.Ile291Val)
NM_020686.6(ABAT):c.892G>A (p.Glu298Lys) rs1443323102
NM_020686.6(ABAT):c.8C>A (p.Ser3Tyr)
NM_020686.6(ABAT):c.933G>C (p.Lys311Asn) rs886043117
NM_020686.6(ABAT):c.938G>C (p.Arg313Thr) rs2142993864
NM_020686.6(ABAT):c.957T>G (p.His319Gln) rs886052431
NM_020686.6(ABAT):c.959G>T (p.Gly320Val)
NM_020686.6(ABAT):c.972G>T (p.Leu324Phe)
NM_020686.6(ABAT):c.979G>A (p.Glu327Lys)
NM_020686.6(ABAT):c.997G>C (p.Gly333Arg)

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