ClinVar Miner

List of variants reported as uncertain significance for GABA aminotransaminase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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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.*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.*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.1158G>A (p.Pro386=) rs374865268 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.864C>T (p.Ala288=) rs149855547 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.25C>T (p.Arg9Cys) rs201701679 0.00006
NM_020686.6(ABAT):c.419T>C (p.Val140Ala) rs886052429 0.00006
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.555G>A (p.Gly185=) rs147765799 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.168+13C>T rs759610129 0.00003
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser) rs141279192 0.00003
NM_020686.6(ABAT):c.708C>T (p.Ile236=) rs778110660 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.830T>C (p.Ile277Thr) rs540071491 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.1431G>A (p.Thr477=) rs573157071 0.00001
NM_020686.6(ABAT):c.285T>C (p.Asp95=) rs917180192 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 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.916G>A (p.Asp306Asn) rs544512086 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
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.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) rs770156912
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr) rs886052432
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.540+14CA[13] rs35745596
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252
NM_020686.6(ABAT):c.957T>G (p.His319Gln) rs886052431

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