ClinVar Miner

List of variants reported as benign for Gamma-aminobutyric acid transaminase deficiency

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.668-90T>C rs1273407 0.99996
NM_020686.6(ABAT):c.*1933T>C rs4985036 0.92763
NM_020686.6(ABAT):c.667+99C>T rs8049072 0.87870
NM_020686.6(ABAT):c.667+120del rs33948976 0.86768
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_020686.6(ABAT):c.*2114G>A rs11648372 0.62549
NM_020686.6(ABAT):c.*990G>C rs4985000 0.62271
NM_020686.6(ABAT):c.*2567C>G rs12597124 0.62254
NM_020686.6(ABAT):c.*1131G>A rs7205816 0.54125
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_020686.6(ABAT):c.366+104C>T rs12930438 0.52142
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_020686.6(ABAT):c.1381+46C>T rs1079349 0.47341
NM_020686.6(ABAT):c.*915C>G rs3743801 0.41460
NM_020686.6(ABAT):c.*512G>A rs3743798 0.39781
NM_020686.6(ABAT):c.*476T>C rs1731071 0.37627
NM_020686.6(ABAT):c.*574A>G rs1641032 0.37580
NM_020686.6(ABAT):c.*571A>C rs1641031 0.37567
NM_020686.6(ABAT):c.70+49T>C rs1640998 0.34626
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_020686.6(ABAT):c.*258G>C rs737695 0.31975
NM_020686.6(ABAT):c.*1405C>T rs7201586 0.26539
NM_020686.6(ABAT):c.*2304T>A rs9456 0.14101
NM_020686.6(ABAT):c.*1558G>A rs45515994 0.14096
NM_020686.6(ABAT):c.*2545C>T rs8275 0.14070
NM_020686.6(ABAT):c.*1575A>G rs45615432 0.14064
NM_020686.6(ABAT):c.*244C>A rs2270289 0.13709
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_020686.6(ABAT):c.*1210T>C rs17674530 0.05905
NM_020686.6(ABAT):c.*1333A>G rs17566580 0.04725
NM_020686.6(ABAT):c.*298C>T rs737694 0.04305
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_020686.6(ABAT):c.*1501A>G rs17651562 0.02340
NM_020686.6(ABAT):c.*1819G>A rs78819878 0.01479
NM_020686.6(ABAT):c.*318T>C rs78352097 0.01478
NM_020686.6(ABAT):c.*99G>C rs76717569 0.01330
NM_020686.6(ABAT):c.168+12A>G rs75151311 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_020686.6(ABAT):c.*31C>T rs147333757 0.00712
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647 0.00407
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_020686.6(ABAT):c.817-6A>G rs140106845 0.00319
NM_020686.6(ABAT):c.366+11G>T rs141893184 0.00318
NM_020686.6(ABAT):c.*32G>A rs737696 0.00296
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_020686.6(ABAT):c.*204A>G rs141010230 0.00205
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.*2744G>C rs192892941 0.00171
NM_020686.6(ABAT):c.366+10G>A rs61307956 0.00097
NM_020686.6(ABAT):c.*2986T>C rs79763179 0.00071
NM_020686.6(ABAT):c.448-20G>A rs200644195 0.00065
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_020686.6(ABAT):c.1278C>T (p.Tyr426=) rs372283568 0.00005
NM_020686.6(ABAT):c.816+18C>T rs770606061 0.00004
NM_020686.6(ABAT):c.*1133G>A rs77110218
NM_020686.6(ABAT):c.*1593T>A rs1061842
NM_020686.6(ABAT):c.*165A>T rs55638039
NM_020686.6(ABAT):c.*242G>T rs2270288
NM_020686.6(ABAT):c.1382-119GATG[6] rs3217123
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[13] rs35745596
NM_020686.6(ABAT):c.70+9del
NM_020686.6(ABAT):c.70+9dup
NM_020686.6(ABAT):c.817-13dup

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