ClinVar Miner

List of variants in gene ABAT reported as likely benign for Gamma-aminobutyric acid transaminase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.*1202G>A rs75730008 0.00704
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_020686.6(ABAT):c.*1075C>T rs117516993 0.00462
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402 0.00219
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00116
NM_020686.6(ABAT):c.*2629G>A rs186857840 0.00065
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_020686.6(ABAT):c.955-19C>T rs200209214 0.00026
NM_020686.6(ABAT):c.*989T>C rs533930699 0.00021
NM_020686.6(ABAT):c.393C>T (p.Leu131=) rs139142171 0.00017
NM_020686.6(ABAT):c.540+15A>G rs773662763 0.00017
NM_020686.6(ABAT):c.1270-14T>C rs200844116 0.00016
NM_020686.6(ABAT):c.735C>T (p.Ile245=) rs367831947 0.00012
NM_020686.6(ABAT):c.408G>A (p.Pro136=) rs149959823 0.00011
NM_020686.6(ABAT):c.489C>T (p.Cys163=) rs200627621 0.00010
NM_020686.6(ABAT):c.741G>A (p.Pro247=) rs201170840 0.00010
NM_020686.6(ABAT):c.1158G>A (p.Pro386=) rs374865268 0.00009
NM_020686.6(ABAT):c.1392G>A (p.Leu464=) rs140054038 0.00009
NM_020686.6(ABAT):c.26G>A (p.Arg9His) rs531783337 0.00009
NM_020686.6(ABAT):c.748C>T (p.Arg250Trp) rs201397255 0.00009
NM_020686.6(ABAT):c.858G>A (p.Thr286=) rs375480247 0.00009
NM_020686.6(ABAT):c.1488A>G (p.Leu496=) rs772187224 0.00007
NM_020686.6(ABAT):c.330C>T (p.Pro110=) rs142857998 0.00007
NM_020686.6(ABAT):c.864C>T (p.Ala288=) rs149855547 0.00007
NM_020686.6(ABAT):c.955-7C>T rs771443083 0.00007
NM_020686.6(ABAT):c.*2074A>C rs191157077 0.00006
NM_020686.6(ABAT):c.541-9T>C rs774934344 0.00006
NM_020686.6(ABAT):c.816+19G>A rs147226856 0.00006
NM_020686.6(ABAT):c.70+9C>T rs374147109 0.00005
NM_020686.6(ABAT):c.954+17G>A rs896794473 0.00005
NM_020686.6(ABAT):c.*539C>T rs548945558 0.00004
NM_020686.6(ABAT):c.1254A>T (p.Gly418=) rs140640183 0.00004
NM_020686.6(ABAT):c.510C>T (p.Asn170=) rs141981377 0.00004
NM_020686.6(ABAT):c.555G>A (p.Gly185=) rs147765799 0.00004
NM_020686.6(ABAT):c.667+18C>T rs756875305 0.00004
NM_020686.6(ABAT):c.801C>T (p.Ala267=) rs377220277 0.00004
NM_020686.6(ABAT):c.817-15C>A rs761188607 0.00004
NM_020686.6(ABAT):c.963C>T (p.Cys321=) rs375537349 0.00004
NM_020686.6(ABAT):c.1053C>T (p.Asp351=) rs772233141 0.00003
NM_020686.6(ABAT):c.1123-15C>T rs376574278 0.00003
NM_020686.6(ABAT):c.168+13C>T rs759610129 0.00003
NM_020686.6(ABAT):c.317-8G>C rs747682160 0.00003
NM_020686.6(ABAT):c.447+13G>A rs200598762 0.00003
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser) rs141279192 0.00003
NM_020686.6(ABAT):c.678G>A (p.Ala226=) rs112564762 0.00003
NM_020686.6(ABAT):c.70+10G>A rs553745013 0.00003
NM_020686.6(ABAT):c.708C>T (p.Ile236=) rs778110660 0.00003
NM_020686.6(ABAT):c.909C>T (p.His303=) rs532330605 0.00003
NM_020686.6(ABAT):c.990C>T (p.Thr330=) rs369874487 0.00003
NM_020686.6(ABAT):c.1062C>T (p.Thr354=) rs772989994 0.00002
NM_020686.6(ABAT):c.1113G>A (p.Arg371=) rs1000294391 0.00002
NM_020686.6(ABAT):c.199-9T>A rs767501137 0.00002
NM_020686.6(ABAT):c.367-11C>T rs368243612 0.00002
NM_020686.6(ABAT):c.462G>C (p.Gly154=) rs892963068 0.00002
NM_020686.6(ABAT):c.486C>T (p.Ala162=) rs763045532 0.00002
NM_020686.6(ABAT):c.618C>T (p.Pro206=) rs373357773 0.00002
NM_020686.6(ABAT):c.667+15T>C rs753309345 0.00002
NM_020686.6(ABAT):c.70+12G>A rs760345321 0.00002
NM_020686.6(ABAT):c.873C>T (p.Ile291=) rs775338476 0.00002
NM_020686.6(ABAT):c.*1311C>A rs532670980 0.00001
NM_020686.6(ABAT):c.1005G>A (p.Thr335=) rs557375445 0.00001
NM_020686.6(ABAT):c.1089C>T (p.Gly363=) rs767008763 0.00001
NM_020686.6(ABAT):c.1125C>G (p.Pro375=) rs755056622 0.00001
NM_020686.6(ABAT):c.1191C>T (p.Asn397=) rs764870964 0.00001
NM_020686.6(ABAT):c.1269+7C>T rs751971295 0.00001
NM_020686.6(ABAT):c.1311C>T (p.Gly437=) rs1481554008 0.00001
NM_020686.6(ABAT):c.1431G>A (p.Thr477=) rs573157071 0.00001
NM_020686.6(ABAT):c.1491A>G (p.Ala497=) rs1290355155 0.00001
NM_020686.6(ABAT):c.153A>C (p.Pro51=) rs1368430890 0.00001
NM_020686.6(ABAT):c.156G>A (p.Gly52=) rs955478669 0.00001
NM_020686.6(ABAT):c.169-6C>T rs758166055 0.00001
NM_020686.6(ABAT):c.18C>T (p.Leu6=) rs766349160 0.00001
NM_020686.6(ABAT):c.199-7C>T rs1488250705 0.00001
NM_020686.6(ABAT):c.231C>T (p.Tyr77=) rs746154029 0.00001
NM_020686.6(ABAT):c.249T>C (p.Asn83=) rs564543173 0.00001
NM_020686.6(ABAT):c.285T>C (p.Asp95=) rs917180192 0.00001
NM_020686.6(ABAT):c.316+19T>C rs1278852788 0.00001
NM_020686.6(ABAT):c.317-11C>T rs779744741 0.00001
NM_020686.6(ABAT):c.317-18A>G rs2059688012 0.00001
NM_020686.6(ABAT):c.366+13G>T rs769166673 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 0.00001
NM_020686.6(ABAT):c.399C>T (p.Ile133=) rs1272415972 0.00001
NM_020686.6(ABAT):c.448-11C>G rs771506614 0.00001
NM_020686.6(ABAT):c.448-5C>A rs374659543 0.00001
NM_020686.6(ABAT):c.525C>T (p.Ile175=) rs1382391739 0.00001
NM_020686.6(ABAT):c.540+13_540+14dup rs765389727 0.00001
NM_020686.6(ABAT):c.541-10A>G rs771274045 0.00001
NM_020686.6(ABAT):c.60G>A (p.Leu20=) rs768798452 0.00001
NM_020686.6(ABAT):c.648G>A (p.Ala216=) rs767550217 0.00001
NM_020686.6(ABAT):c.657G>C (p.Gly219=) rs1245557067 0.00001
NM_020686.6(ABAT):c.667+20C>T rs376506551 0.00001
NM_020686.6(ABAT):c.70+13G>T rs1282229987 0.00001
NM_020686.6(ABAT):c.70+20A>C rs763704300 0.00001
NM_020686.6(ABAT):c.789A>G (p.Gln263=) rs749392643 0.00001
NM_020686.6(ABAT):c.817-5T>A rs1424382157 0.00001
NM_020686.6(ABAT):c.840T>C (p.Tyr280=) rs1596470323 0.00001
NM_020686.6(ABAT):c.954+12G>A rs372226894 0.00001
NM_020686.6(ABAT):c.955-14T>G rs375655134 0.00001
NM_020686.6(ABAT):c.975G>A (p.Val325=) rs761480429 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
NM_020686.6(ABAT):c.999C>T (p.Gly333=) rs1353981722 0.00001
NM_020686.6(ABAT):c.*1765TTCA[2] rs148513949
NM_020686.6(ABAT):c.*3039del rs766850207
NM_020686.6(ABAT):c.*3110_*3113del rs147433667
NM_020686.6(ABAT):c.1036C>T (p.Leu346=)
NM_020686.6(ABAT):c.1047A>C (p.Pro349=)
NM_020686.6(ABAT):c.1047A>G (p.Pro349=) rs761184958
NM_020686.6(ABAT):c.108C>T (p.Asp36=) rs751650520
NM_020686.6(ABAT):c.1122+11G>C
NM_020686.6(ABAT):c.1122+12C>T
NM_020686.6(ABAT):c.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1123-14G>T
NM_020686.6(ABAT):c.1123-15C>G rs376574278
NM_020686.6(ABAT):c.1123-18A>G
NM_020686.6(ABAT):c.1123-20A>C
NM_020686.6(ABAT):c.1123-7A>C
NM_020686.6(ABAT):c.1125C>T (p.Pro375=)
NM_020686.6(ABAT):c.1137C>T (p.Phe379=)
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) rs770156912
NM_020686.6(ABAT):c.1152G>T (p.Gly384=)
NM_020686.6(ABAT):c.1158G>T (p.Pro386=)
NM_020686.6(ABAT):c.1168C>T (p.Leu390=)
NM_020686.6(ABAT):c.1170G>C (p.Leu390=)
NM_020686.6(ABAT):c.1170G>T (p.Leu390=) rs1216400203
NM_020686.6(ABAT):c.1182G>A (p.Glu394=)
NM_020686.6(ABAT):c.1194C>T (p.Ile398=)
NM_020686.6(ABAT):c.1210C>T (p.Leu404=) rs1256407713
NM_020686.6(ABAT):c.1227C>A (p.Ala409=)
NM_020686.6(ABAT):c.1233C>A (p.Ala411=)
NM_020686.6(ABAT):c.1233C>G (p.Ala411=) rs147188899
NM_020686.6(ABAT):c.1233C>T (p.Ala411=) rs147188899
NM_020686.6(ABAT):c.1248C>T (p.Leu416=)
NM_020686.6(ABAT):c.1260G>A (p.Leu420=)
NM_020686.6(ABAT):c.1266C>T (p.Leu422=)
NM_020686.6(ABAT):c.1269+12T>A
NM_020686.6(ABAT):c.1269+18G>A rs1567317709
NM_020686.6(ABAT):c.1269+20C>T
NM_020686.6(ABAT):c.1269+9C>G rs2142998394
NM_020686.6(ABAT):c.1270-11T>C
NM_020686.6(ABAT):c.1270-13C>T
NM_020686.6(ABAT):c.1270-17G>T
NM_020686.6(ABAT):c.1270-19T>G
NM_020686.6(ABAT):c.1290C>T (p.Ile430=)
NM_020686.6(ABAT):c.1293C>T (p.Ser431=) rs2143002708
NM_020686.6(ABAT):c.1296G>A (p.Arg432=)
NM_020686.6(ABAT):c.1323C>T (p.Ser441=) rs1233713916
NM_020686.6(ABAT):c.1326C>T (p.Phe442=) rs201566019
NM_020686.6(ABAT):c.1338T>C (p.Asp446=) rs756005421
NM_020686.6(ABAT):c.1344C>T (p.Ser448=) rs2143002825
NM_020686.6(ABAT):c.135G>A (p.Leu45=)
NM_020686.6(ABAT):c.1368T>A (p.Ile456=)
NM_020686.6(ABAT):c.1374A>G (p.Arg458=)
NM_020686.6(ABAT):c.1381+18G>A
NM_020686.6(ABAT):c.1382-10C>T rs2060432035
NM_020686.6(ABAT):c.1382-11G>C
NM_020686.6(ABAT):c.1382-16C>T
NM_020686.6(ABAT):c.1382-9C>T rs1404962969
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.13T>C (p.Leu5=) rs2058905642
NM_020686.6(ABAT):c.1425T>A (p.Arg475=)
NM_020686.6(ABAT):c.144G>A (p.Thr48=) rs777699903
NM_020686.6(ABAT):c.144G>C (p.Thr48=)
NM_020686.6(ABAT):c.144G>T (p.Thr48=) rs777699903
NM_020686.6(ABAT):c.1459C>T (p.Leu487=)
NM_020686.6(ABAT):c.1461G>A (p.Leu487=)
NM_020686.6(ABAT):c.1461G>C (p.Leu487=)
NM_020686.6(ABAT):c.1491A>C (p.Ala497=) rs1290355155
NM_020686.6(ABAT):c.150C>T (p.Val50=) rs2142624986
NM_020686.6(ABAT):c.168+18G>C
NM_020686.6(ABAT):c.168+20G>T
NM_020686.6(ABAT):c.169-10T>C
NM_020686.6(ABAT):c.169-13T>A rs754077432
NM_020686.6(ABAT):c.169-14_169-12del rs1470661184
NM_020686.6(ABAT):c.169-5_169-4inv
NM_020686.6(ABAT):c.169-8G>C rs2059383863
NM_020686.6(ABAT):c.186G>C (p.Leu62=)
NM_020686.6(ABAT):c.186G>T (p.Leu62=)
NM_020686.6(ABAT):c.198+10G>A rs748922986
NM_020686.6(ABAT):c.198+16G>A
NM_020686.6(ABAT):c.198+17T>C
NM_020686.6(ABAT):c.198+23_198+27del rs1357421251
NM_020686.6(ABAT):c.198+7G>A
NM_020686.6(ABAT):c.198+9_198+10insT
NM_020686.6(ABAT):c.199-13T>C
NM_020686.6(ABAT):c.199-18G>A
NM_020686.6(ABAT):c.199-6T>C
NM_020686.6(ABAT):c.228T>C (p.Asn76=)
NM_020686.6(ABAT):c.261T>C (p.Asp87=)
NM_020686.6(ABAT):c.264G>A (p.Val88=)
NM_020686.6(ABAT):c.291T>C (p.Tyr97=)
NM_020686.6(ABAT):c.303C>T (p.Ser101=)
NM_020686.6(ABAT):c.316+12G>C
NM_020686.6(ABAT):c.316+15A>G
NM_020686.6(ABAT):c.316+7G>C rs2142726854
NM_020686.6(ABAT):c.316+9T>C rs1596454454
NM_020686.6(ABAT):c.317-15C>T
NM_020686.6(ABAT):c.317-18dup
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.317-5C>T rs781499078
NM_020686.6(ABAT):c.317-7C>T
NM_020686.6(ABAT):c.318T>C (p.Gly106=)
NM_020686.6(ABAT):c.327C>T (p.His109=) rs1393125718
NM_020686.6(ABAT):c.345C>T (p.Leu115=)
NM_020686.6(ABAT):c.367-11C>A rs368243612
NM_020686.6(ABAT):c.367-15C>G rs2142919190
NM_020686.6(ABAT):c.367-9C>T
NM_020686.6(ABAT):c.36C>T (p.Cys12=)
NM_020686.6(ABAT):c.378C>T (p.Val126=)
NM_020686.6(ABAT):c.381C>T (p.Asn127=)
NM_020686.6(ABAT):c.39C>T (p.Ser13=)
NM_020686.6(ABAT):c.417T>C (p.Phe139=) rs2142919912
NM_020686.6(ABAT):c.420G>A (p.Val140=) rs1596464284
NM_020686.6(ABAT):c.432G>C (p.Arg144=) rs974152356
NM_020686.6(ABAT):c.439T>C (p.Leu147=)
NM_020686.6(ABAT):c.444C>G (p.Leu148=)
NM_020686.6(ABAT):c.447+12A>T rs2142920603
NM_020686.6(ABAT):c.447+15A>G
NM_020686.6(ABAT):c.447+17C>A rs376401008
NM_020686.6(ABAT):c.447+17C>T rs376401008
NM_020686.6(ABAT):c.447+20T>A
NM_020686.6(ABAT):c.448-10C>A
NM_020686.6(ABAT):c.448-11C>T
NM_020686.6(ABAT):c.448-18C>A
NM_020686.6(ABAT):c.448-18C>T rs2142927888
NM_020686.6(ABAT):c.448-5C>T rs374659543
NM_020686.6(ABAT):c.45G>A (p.Gln15=)
NM_020686.6(ABAT):c.471G>A (p.Gln157=) rs762337644
NM_020686.6(ABAT):c.501C>T (p.Ser167=) rs753562528
NM_020686.6(ABAT):c.513C>T (p.Ala171=)
NM_020686.6(ABAT):c.516A>G (p.Leu172=)
NM_020686.6(ABAT):c.522C>T (p.Thr174=)
NM_020686.6(ABAT):c.540+14C>G
NM_020686.6(ABAT):c.540+14CA[10] rs35745596
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.540+14CA[15] rs35745596
NM_020686.6(ABAT):c.540+14CA[16] rs35745596
NM_020686.6(ABAT):c.540+14CA[6] rs35745596
NM_020686.6(ABAT):c.540+14CA[7] rs35745596
NM_020686.6(ABAT):c.540+14CA[8] rs35745596
NM_020686.6(ABAT):c.540+14CA[9] rs35745596
NM_020686.6(ABAT):c.540+16C>A
NM_020686.6(ABAT):c.540+17A>G
NM_020686.6(ABAT):c.540+8T>C rs762214989
NM_020686.6(ABAT):c.541-15G>C rs779730449
NM_020686.6(ABAT):c.541-5T>C
NM_020686.6(ABAT):c.558G>A (p.Gln186=)
NM_020686.6(ABAT):c.57C>T (p.Arg19=) rs1428203927
NM_020686.6(ABAT):c.585G>A (p.Glu195=) rs2142947004
NM_020686.6(ABAT):c.588G>C (p.Thr196=)
NM_020686.6(ABAT):c.603+15G>C rs1385658702
NM_020686.6(ABAT):c.603+19G>A
NM_020686.6(ABAT):c.604-17A>T
NM_020686.6(ABAT):c.604-18G>C
NM_020686.6(ABAT):c.604-6T>A
NM_020686.6(ABAT):c.604-7G>A rs777269086
NM_020686.6(ABAT):c.606C>T (p.Ala202=) rs1555492234
NM_020686.6(ABAT):c.612C>A (p.Gly204=)
NM_020686.6(ABAT):c.615C>T (p.Cys205=)
NM_020686.6(ABAT):c.618C>G (p.Pro206=) rs373357773
NM_020686.6(ABAT):c.630C>T (p.Ile210=)
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.660G>A (p.Arg220=)
NM_020686.6(ABAT):c.667+13C>T
NM_020686.6(ABAT):c.667+14A>G
NM_020686.6(ABAT):c.667+15T>G
NM_020686.6(ABAT):c.667+19G>A rs546406644
NM_020686.6(ABAT):c.667+7A>C
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252
NM_020686.6(ABAT):c.66G>A (p.Val22=)
NM_020686.6(ABAT):c.678G>C (p.Ala226=) rs112564762
NM_020686.6(ABAT):c.70+11G>T
NM_020686.6(ABAT):c.70+13G>C
NM_020686.6(ABAT):c.70+14G>A
NM_020686.6(ABAT):c.70+16C>T
NM_020686.6(ABAT):c.70+18T>G
NM_020686.6(ABAT):c.70+7C>T rs1350929505
NM_020686.6(ABAT):c.70+9C>G
NM_020686.6(ABAT):c.71-10T>C
NM_020686.6(ABAT):c.71-12del rs781324531
NM_020686.6(ABAT):c.71-15C>T
NM_020686.6(ABAT):c.71-19T>C rs2142622264
NM_020686.6(ABAT):c.71-4G>A
NM_020686.6(ABAT):c.71-6C>A
NM_020686.6(ABAT):c.732C>G (p.Pro244=) rs2060021356
NM_020686.6(ABAT):c.748C>A (p.Arg250=)
NM_020686.6(ABAT):c.751C>T (p.Leu251=)
NM_020686.6(ABAT):c.759C>T (p.Tyr253=) rs2060022284
NM_020686.6(ABAT):c.763C>T (p.Leu255=)
NM_020686.6(ABAT):c.798G>A (p.Glu266=)
NM_020686.6(ABAT):c.816+12A>G
NM_020686.6(ABAT):c.816+16T>C
NM_020686.6(ABAT):c.816+18C>A
NM_020686.6(ABAT):c.816+20G>A
NM_020686.6(ABAT):c.816+9C>G
NM_020686.6(ABAT):c.817-13C>T
NM_020686.6(ABAT):c.817-16C>T
NM_020686.6(ABAT):c.817-18_817-17del
NM_020686.6(ABAT):c.817-20C>T rs2142993666
NM_020686.6(ABAT):c.834G>A (p.Val278=) rs905413679
NM_020686.6(ABAT):c.879G>A (p.Glu293=)
NM_020686.6(ABAT):c.882C>T (p.Pro294=) rs2060153469
NM_020686.6(ABAT):c.885C>A (p.Ile295=)
NM_020686.6(ABAT):c.885C>T (p.Ile295=) rs2142993787
NM_020686.6(ABAT):c.891C>G (p.Ser297=) rs142228298
NM_020686.6(ABAT):c.891C>T (p.Ser297=) rs142228298
NM_020686.6(ABAT):c.915C>T (p.Ser305=)
NM_020686.6(ABAT):c.936G>A (p.Leu312=) rs1596470421
NM_020686.6(ABAT):c.945C>A (p.Ile315=)
NM_020686.6(ABAT):c.945C>T (p.Ile315=) rs368667677
NM_020686.6(ABAT):c.954+10C>G
NM_020686.6(ABAT):c.954+13G>T
NM_020686.6(ABAT):c.954+14G>A rs2060156324
NM_020686.6(ABAT):c.954+15C>A
NM_020686.6(ABAT):c.954+15C>T rs748546258
NM_020686.6(ABAT):c.954+8G>A
NM_020686.6(ABAT):c.955-13C>A rs749756374
NM_020686.6(ABAT):c.955-15C>T rs778033706
NM_020686.6(ABAT):c.955-4C>G rs774347728
NM_020686.6(ABAT):c.955-8C>A
NM_020686.6(ABAT):c.96A>C (p.Ala32=) rs2059317913
NM_020686.6(ABAT):c.96A>G (p.Ala32=)
NM_020686.6(ABAT):c.970T>C (p.Leu324=)

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