ClinVar Miner

List of variants studied for congenital brain dysgenesis due to glutamine synthetase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001033044.4(GLUL):c.*2118T>C rs10458354 0.99979
NM_001033044.4(GLUL):c.-43G>C rs912901 0.84379
NM_002065.6(GLUL):c.-486T>C rs912902 0.83866
NM_001033044.4(GLUL):c.*2307C>T rs2296521 0.62516
NM_001033044.4(GLUL):c.*342T>A rs9347 0.59226
NM_001033044.4(GLUL):c.*2644G>C rs2296523 0.58857
NM_001033044.4(GLUL):c.476-24T>C rs2296519 0.58843
NM_001033044.4(GLUL):c.195T>C (p.Ser65=) rs1058111 0.58837
NM_001033044.4(GLUL):c.*919A>G rs7734 0.58827
NM_001033044.4(GLUL):c.328+19A>G rs17462824 0.07277
NM_001033044.4(GLUL):c.*2021G>T rs16858921 0.03236
NM_001033044.4(GLUL):c.*922A>G rs8762 0.03233
NM_001033044.4(GLUL):c.*465A>G rs16828882 0.03228
NM_001033044.4(GLUL):c.-125A>G rs112448103 0.03169
NC_000001.11:g.182392208A>G rs59310772 0.03155
NM_001033044.4(GLUL):c.-14+1136G>T rs4110992 0.01462
NM_001033044.4(GLUL):c.*1364G>A rs115448180 0.01401
NM_001033044.4(GLUL):c.*1958G>A rs79056692 0.01333
NM_001033044.4(GLUL):c.*1340C>A rs78220577 0.01330
NM_001033044.4(GLUL):c.*547C>A rs76673199 0.01330
NM_001033044.4(GLUL):c.825G>A (p.Glu275=) rs35378126 0.01038
NM_001033044.4(GLUL):c.*1411C>T rs1058806 0.00912
NM_001033044.4(GLUL):c.*966A>G rs7543200 0.00834
NM_001033044.4(GLUL):c.*1762A>G rs138138013 0.00633
NM_001033044.4(GLUL):c.*1276C>T rs143904819 0.00400
NM_001033044.4(GLUL):c.*1772C>G rs148906736 0.00388
NM_001033044.4(GLUL):c.603+5G>A rs140378060 0.00329
NM_001033044.4(GLUL):c.*1594_*1595del rs367629181 0.00305
NM_001033044.4(GLUL):c.-14+905T>C rs78752021 0.00297
NM_001033044.4(GLUL):c.*1357T>G rs180970725 0.00153
NM_001033044.4(GLUL):c.-110A>G rs558342179 0.00150
NM_001033044.4(GLUL):c.768C>T (p.Phe256=) rs6684136 0.00138
NM_001033044.4(GLUL):c.*2571C>T rs191511731 0.00105
NM_001033044.4(GLUL):c.-14+997A>G rs187277313 0.00064
NM_001033044.4(GLUL):c.*849C>T rs577169145 0.00061
NM_001033044.4(GLUL):c.881T>G (p.Leu294Arg) rs189435460 0.00054
NM_001033044.4(GLUL):c.*2074dup rs111775366 0.00052
NM_001033044.4(GLUL):c.*1218G>A rs549506269 0.00050
NM_001033044.4(GLUL):c.*2313C>T rs886045601 0.00050
NM_001033044.4(GLUL):c.*2172C>T rs771874332 0.00041
NM_001033044.4(GLUL):c.*2516A>G rs140277335 0.00039
NM_001033044.4(GLUL):c.-14+1168C>T rs149699916 0.00039
NM_001033044.4(GLUL):c.328+16G>A rs371238132 0.00039
NM_002065.6(GLUL):c.-816C>G rs1033534386 0.00037
NM_002065.6(GLUL):c.-819G>A rs535874660 0.00037
NM_001033044.4(GLUL):c.-14+1038C>T rs532574396 0.00033
NM_001033044.4(GLUL):c.-14+955C>T rs370070318 0.00032
NM_002065.6(GLUL):c.-778G>T rs796811056 0.00031
NM_001033044.4(GLUL):c.*1919A>G rs886045604 0.00030
NM_001033044.4(GLUL):c.1085A>G (p.Asn362Ser) rs138414181 0.00027
NM_001033044.4(GLUL):c.*2074G>A rs185466076 0.00026
NM_001033044.4(GLUL):c.880C>T (p.Leu294=) rs199824213 0.00026
NM_001033044.4(GLUL):c.*1057A>G rs571517535 0.00024
NM_001033044.4(GLUL):c.329-18A>T rs200242040 0.00024
NM_001033044.4(GLUL):c.*2494G>T rs77070600 0.00023
NM_001033044.4(GLUL):c.604-5T>C rs759738919 0.00023
NM_002065.6(GLUL):c.-564C>A rs760794180 0.00023
NM_001033044.4(GLUL):c.*1033G>C rs186333925 0.00019
NM_002065.6(GLUL):c.-529G>T rs1055830880 0.00017
NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile) rs144782603 0.00016
NM_001033044.4(GLUL):c.*2203A>G rs550128202 0.00015
NM_001033044.4(GLUL):c.-14+966C>T rs954104168 0.00013
NM_001033044.4(GLUL):c.166+12A>G rs368203669 0.00012
NM_001033044.4(GLUL):c.167-12T>A rs367852420 0.00012
NM_001033044.4(GLUL):c.*399C>T rs886045613 0.00011
NM_001033044.4(GLUL):c.*687A>G rs546951174 0.00010
NM_001033044.4(GLUL):c.726C>T (p.Pro242=) rs111467270 0.00010
NM_001033044.4(GLUL):c.-14+934C>G rs534569561 0.00009
NM_001033044.4(GLUL):c.-80G>A rs925108907 0.00008
NM_002065.6(GLUL):c.-680C>A rs886045622 0.00008
NM_001033044.4(GLUL):c.*1961G>A rs542537003 0.00007
NM_001033044.4(GLUL):c.*2365G>A rs140748780 0.00005
NM_001033044.4(GLUL):c.*2463C>A rs886045600 0.00005
NM_001033044.4(GLUL):c.-14+958G>A rs549137282 0.00005
NM_001033044.4(GLUL):c.604-9C>T rs775437860 0.00005
NM_001033044.4(GLUL):c.845A>G (p.Gln282Arg) rs769473505 0.00005
NM_001033044.4(GLUL):c.*1692A>G rs886045607 0.00004
NM_001033044.4(GLUL):c.*1978G>A rs868130362 0.00004
NM_001033044.4(GLUL):c.*722A>C rs911761889 0.00004
NM_001033044.4(GLUL):c.-56C>T rs886045620 0.00004
NM_001033044.4(GLUL):c.930C>T (p.Asn310=) rs369280031 0.00004
NM_001033044.4(GLUL):c.*1510G>T rs886045608 0.00003
NM_001033044.4(GLUL):c.*1646C>T rs1334917697 0.00003
NM_001033044.4(GLUL):c.*850T>C rs886045610 0.00003
NM_001033044.4(GLUL):c.355C>T (p.Arg119Trp) rs771501078 0.00003
NM_001033044.4(GLUL):c.784C>A (p.Arg262=) rs532199483 0.00003
NM_001033044.4(GLUL):c.*1442A>G rs748871597 0.00002
NM_001033044.4(GLUL):c.*305C>T rs886045614 0.00002
NM_001033044.4(GLUL):c.*717T>C rs886045611 0.00002
NM_001033044.4(GLUL):c.1050G>A (p.Ser350=) rs763261567 0.00002
NM_001033044.4(GLUL):c.268C>T (p.Arg90Cys) rs199746338 0.00002
NM_001033044.4(GLUL):c.366C>T (p.Asp122=) rs375568739 0.00002
NM_001033044.4(GLUL):c.604-8G>A rs770004985 0.00002
NM_001033044.4(GLUL):c.714T>C (p.Phe238=) rs768089308 0.00002
NM_001033044.4(GLUL):c.*101dup rs202163570 0.00001
NM_001033044.4(GLUL):c.*1058G>A rs146631739 0.00001
NM_001033044.4(GLUL):c.*1596G>A rs779753907 0.00001
NM_001033044.4(GLUL):c.*1790C>T rs886045606 0.00001
NM_001033044.4(GLUL):c.*1953C>T rs1271037645 0.00001
NM_001033044.4(GLUL):c.*210T>C rs1571403634 0.00001
NM_001033044.4(GLUL):c.*2304T>A rs1324820761 0.00001
NM_001033044.4(GLUL):c.*2555G>C rs890819500 0.00001
NM_001033044.4(GLUL):c.*2636C>T rs531293807 0.00001
NM_001033044.4(GLUL):c.*2691C>G rs1297863407 0.00001
NM_001033044.4(GLUL):c.-14+916C>T rs886045618 0.00001
NM_001033044.4(GLUL):c.-53T>C rs1415343537 0.00001
NM_001033044.4(GLUL):c.1021C>T (p.Arg341Cys) rs80358215 0.00001
NM_001033044.4(GLUL):c.1022G>A (p.Arg341His) rs753270381 0.00001
NM_001033044.4(GLUL):c.1093G>A (p.Gly365Ser) rs754863423 0.00001
NM_001033044.4(GLUL):c.238G>A (p.Val80Met) rs151138433 0.00001
NM_001033044.4(GLUL):c.29A>G (p.Asn10Ser) rs763550998 0.00001
NM_001033044.4(GLUL):c.57C>T (p.Ser19=) rs1381592080 0.00001
NM_001033044.4(GLUL):c.603+16A>G rs556834480 0.00001
NM_001033044.4(GLUL):c.61C>T (p.Pro21Ser) rs1056451074 0.00001
NM_001033044.4(GLUL):c.651T>C (p.His217=) rs1258962476 0.00001
NM_001033044.4(GLUL):c.675G>A (p.Leu225=) rs758842329 0.00001
NM_001033044.4(GLUL):c.857G>A (p.Arg286His) rs181868091 0.00001
NM_001033044.4(GLUL):c.863A>G (p.Tyr288Cys) rs886045617 0.00001
NM_001033044.4(GLUL):c.86T>C (p.Met29Thr) rs149371914 0.00001
NM_001033044.4(GLUL):c.98T>C (p.Ile33Thr) rs760900804 0.00001
NM_001033044.4(GLUL):c.996G>A (p.Glu332=) rs747299742 0.00001
NM_001033044.4(GLUL):c.*1281G>A rs1650008989
NM_001033044.4(GLUL):c.*1286ATT[1] rs769384071
NM_001033044.4(GLUL):c.*1289A>T rs191614640
NM_001033044.4(GLUL):c.*129G>T rs886045616
NM_001033044.4(GLUL):c.*1467GT[1] rs138636848
NM_001033044.4(GLUL):c.*1563_*1566del rs559713506
NM_001033044.4(GLUL):c.*1676T>C rs1649990309
NM_001033044.4(GLUL):c.*169G>A rs886045615
NM_001033044.4(GLUL):c.*1909_*1910insTCATTT rs3028837
NM_001033044.4(GLUL):c.*1910_*1913delinsTCATTTAAGT rs886045605
NM_001033044.4(GLUL):c.*1913A>T rs4517308
NM_001033044.4(GLUL):c.*1932T>G rs886045603
NM_001033044.4(GLUL):c.*1994G>A rs1649970022
NM_001033044.4(GLUL):c.*2128C>T rs1051315462
NM_001033044.4(GLUL):c.*2130T>A rs886045602
NM_001033044.4(GLUL):c.*2232C>T rs564315236
NM_001033044.4(GLUL):c.*248dup rs541187376
NM_001033044.4(GLUL):c.*2604C>A rs886045599
NM_001033044.4(GLUL):c.*2631G>A rs2296522
NM_001033044.4(GLUL):c.*2631G>C rs2296522
NM_001033044.4(GLUL):c.*272C>G rs184789378
NM_001033044.4(GLUL):c.*289G>T rs1222418916
NM_001033044.4(GLUL):c.*297C>A rs1027309183
NM_001033044.4(GLUL):c.*306G>T rs995133894
NM_001033044.4(GLUL):c.*481G>A rs886045612
NM_001033044.4(GLUL):c.*492GA[2] rs774211990
NM_001033044.4(GLUL):c.*527G>T rs1277149065
NM_001033044.4(GLUL):c.*684dup rs200642235
NM_001033044.4(GLUL):c.*981T>G rs886045609
NM_001033044.4(GLUL):c.-119G>A rs1194932776
NM_001033044.4(GLUL):c.-14+1008C>G rs145293725
NM_001033044.4(GLUL):c.-14+10del rs886045619
NM_001033044.4(GLUL):c.-14+853_-14+855del rs140356059
NM_001033044.4(GLUL):c.-14+892G>A rs192236496
NM_001033044.4(GLUL):c.-14+998C>T rs1650374122
NM_001033044.4(GLUL):c.-33C>T rs1571413734
NM_001033044.4(GLUL):c.1023C>T (p.Arg341=)
NM_001033044.4(GLUL):c.1038C>T (p.Cys346=)
NM_001033044.4(GLUL):c.1044C>G (p.Pro348=)
NM_001033044.4(GLUL):c.1065C>T (p.Leu355=)
NM_001033044.4(GLUL):c.1075T>G (p.Cys359Gly) rs1650080437
NM_001033044.4(GLUL):c.1084A>G (p.Asn362Asp) rs1650079466
NM_001033044.4(GLUL):c.1092C>T (p.Thr364=)
NM_001033044.4(GLUL):c.1100A>G (p.Glu367Gly) rs2101930806
NM_001033044.4(GLUL):c.1102C>T (p.Pro368Ser)
NM_001033044.4(GLUL):c.134G>A (p.Arg45Gln) rs903093400
NM_001033044.4(GLUL):c.166+13T>C
NM_001033044.4(GLUL):c.166+15T>G
NM_001033044.4(GLUL):c.173C>G (p.Pro58Arg)
NM_001033044.4(GLUL):c.177G>A (p.Glu59=)
NM_001033044.4(GLUL):c.237C>T (p.Leu79=)
NM_001033044.4(GLUL):c.255T>C (p.Phe85=)
NM_001033044.4(GLUL):c.267C>G (p.Phe89Leu)
NM_001033044.4(GLUL):c.308A>G (p.Lys103Arg)
NM_001033044.4(GLUL):c.316C>T (p.Arg106Ter)
NM_001033044.4(GLUL):c.328+14C>T
NM_001033044.4(GLUL):c.328+7TA[3]
NM_001033044.4(GLUL):c.329-20T>G
NM_001033044.4(GLUL):c.415del (p.Leu139fs) rs1650179029
NM_001033044.4(GLUL):c.426A>G (p.Thr142=)
NM_001033044.4(GLUL):c.467G>A (p.Gly156Glu)
NM_001033044.4(GLUL):c.475+18A>T
NM_001033044.4(GLUL):c.475+9C>T
NM_001033044.4(GLUL):c.476-10G>A
NM_001033044.4(GLUL):c.53T>C (p.Met18Thr)
NM_001033044.4(GLUL):c.542G>A (p.Arg181Gln)
NM_001033044.4(GLUL):c.564C>T (p.Val188=)
NM_001033044.4(GLUL):c.572C>T (p.Ala191Val)
NM_001033044.4(GLUL):c.590T>G (p.Val197Gly)
NM_001033044.4(GLUL):c.603+16A>T
NM_001033044.4(GLUL):c.603+2dup rs2101932709
NM_001033044.4(GLUL):c.603+8T>C
NM_001033044.4(GLUL):c.622C>G (p.Pro208Ala)
NM_001033044.4(GLUL):c.650A>G (p.His217Arg)
NM_001033044.4(GLUL):c.655T>C (p.Trp219Arg) rs1650136962
NM_001033044.4(GLUL):c.678_679delinsGT (p.His226_Arg227delinsGlnCys) rs1553249951
NM_001033044.4(GLUL):c.679C>T (p.Arg227Cys)
NM_001033044.4(GLUL):c.680G>A (p.Arg227His)
NM_001033044.4(GLUL):c.68_82del (p.Gly23_Gln27del)
NM_001033044.4(GLUL):c.696T>C (p.Phe232=)
NM_001033044.4(GLUL):c.753C>T (p.Gly251=)
NM_001033044.4(GLUL):c.768C>G (p.Phe256Leu)
NM_001033044.4(GLUL):c.806A>G (p.Tyr269Cys)
NM_001033044.4(GLUL):c.810C>T (p.Ile270=)
NM_001033044.4(GLUL):c.870C>G (p.Pro290=)
NM_001033044.4(GLUL):c.897T>C (p.Arg299=)
NM_001033044.4(GLUL):c.898C>T (p.Leu300=)
NM_001033044.4(GLUL):c.956G>A (p.Arg319His) rs1394152846
NM_001033044.4(GLUL):c.961G>A (p.Ala321Thr)
NM_001033044.4(GLUL):c.970C>A (p.Arg324Ser) rs80358214
NM_001033044.4(GLUL):c.970C>T (p.Arg324Cys) rs80358214
NM_001033044.4(GLUL):c.986T>C (p.Val329Ala)
NM_001033044.4(GLUL):c.997AAG[1] (p.Lys334del) rs1558157160
NM_002065.6(GLUL):c.-675_-674TC[1] rs886045621
NM_002065.6(GLUL):c.-706C>T rs60442279
NM_002065.6(GLUL):c.-718G>C rs116040694
NM_002065.6(GLUL):c.-745C>T rs886045623

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