ClinVar Miner

List of variants in gene GABBR2 reported as uncertain significance for Epileptic encephalopathy

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Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.1893+6C>A rs768251779 0.00005
NM_005458.8(GABBR2):c.1036C>T (p.Arg346Trp) rs952504124 0.00004
NM_005458.8(GABBR2):c.2621C>A (p.Thr874Lys) rs1363876623 0.00004
NM_005458.8(GABBR2):c.814A>G (p.Met272Val) rs981756907 0.00004
NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) rs765018232 0.00003
NM_005458.8(GABBR2):c.1708G>A (p.Ala570Thr) rs772058401 0.00003
NM_005458.8(GABBR2):c.1910G>A (p.Arg637Gln) rs78208670 0.00003
NM_005458.8(GABBR2):c.400G>A (p.Val134Ile) rs764365066 0.00003
NM_005458.8(GABBR2):c.805G>A (p.Glu269Lys) rs138148830 0.00003
NM_005458.8(GABBR2):c.1032C>G (p.Asn344Lys) rs746569162 0.00002
NM_005458.8(GABBR2):c.1424G>A (p.Arg475Gln) rs762426467 0.00002
NM_005458.8(GABBR2):c.143G>A (p.Arg48Gln) rs1431110237 0.00002
NM_005458.8(GABBR2):c.2179G>A (p.Val727Ile) rs752489353 0.00002
NM_005458.8(GABBR2):c.2221G>A (p.Val741Met) rs370955037 0.00002
NM_005458.8(GABBR2):c.2468C>T (p.Thr823Ile) rs753265829 0.00002
NM_005458.8(GABBR2):c.856G>A (p.Glu286Lys) rs745672188 0.00002
NM_005458.8(GABBR2):c.911G>A (p.Arg304Gln) rs766347577 0.00002
NM_005458.8(GABBR2):c.1021G>C (p.Glu341Gln) rs370102532 0.00001
NM_005458.8(GABBR2):c.1045G>A (p.Val349Met) rs759044661 0.00001
NM_005458.8(GABBR2):c.1072G>A (p.Ala358Thr) rs753968000 0.00001
NM_005458.8(GABBR2):c.1142G>A (p.Arg381Gln) rs1008758499 0.00001
NM_005458.8(GABBR2):c.1145A>G (p.His382Arg) rs1826282067 0.00001
NM_005458.8(GABBR2):c.1252C>T (p.Arg418Trp) rs779267117 0.00001
NM_005458.8(GABBR2):c.137C>T (p.Ala46Val) rs753441454 0.00001
NM_005458.8(GABBR2):c.146C>T (p.Pro49Leu) rs760146944 0.00001
NM_005458.8(GABBR2):c.1476G>T (p.Gly492=) rs144387402 0.00001
NM_005458.8(GABBR2):c.158G>A (p.Ser53Asn) rs1830933565 0.00001
NM_005458.8(GABBR2):c.161C>T (p.Pro54Leu) rs1255805463 0.00001
NM_005458.8(GABBR2):c.1801G>A (p.Val601Met) rs758668397 0.00001
NM_005458.8(GABBR2):c.2137A>G (p.Thr713Ala) rs1433245976 0.00001
NM_005458.8(GABBR2):c.2390G>A (p.Arg797His) rs80137447 0.00001
NM_005458.8(GABBR2):c.2669G>A (p.Arg890His) rs1430192079 0.00001
NM_005458.8(GABBR2):c.269A>G (p.Asn90Ser) rs370768849 0.00001
NM_005458.8(GABBR2):c.35C>T (p.Pro12Leu) rs1830937754 0.00001
NM_005458.8(GABBR2):c.630+6C>T rs1166001117 0.00001
NM_005458.8(GABBR2):c.902G>A (p.Arg301His) rs760023782 0.00001
NM_005458.8(GABBR2):c.979A>T (p.Ile327Phe) rs542987260 0.00001
NC_000009.11:g.(?_101052866)_(101073507_?)dup
NM_005458.8(GABBR2):c.1000-3C>T
NM_005458.8(GABBR2):c.1026CAA[2] (p.Asn344del)
NM_005458.8(GABBR2):c.1028A>G (p.Asn343Ser) rs1826284598
NM_005458.8(GABBR2):c.1037G>A (p.Arg346Gln)
NM_005458.8(GABBR2):c.1037G>T (p.Arg346Leu)
NM_005458.8(GABBR2):c.1054A>G (p.Ser352Gly)
NM_005458.8(GABBR2):c.1067G>C (p.Gly356Ala)
NM_005458.8(GABBR2):c.1091T>G (p.Val364Gly) rs2131603633
NM_005458.8(GABBR2):c.109C>T (p.Pro37Ser) rs1830934863
NM_005458.8(GABBR2):c.10C>A (p.Pro4Thr)
NM_005458.8(GABBR2):c.1108C>T (p.Gln370Ter)
NM_005458.8(GABBR2):c.1112G>A (p.Arg371Lys) rs1317133027
NM_005458.8(GABBR2):c.1119G>T (p.Met373Ile)
NM_005458.8(GABBR2):c.113G>A (p.Gly38Glu) rs1830934754
NM_005458.8(GABBR2):c.1141C>T (p.Arg381Trp) rs762809795
NM_005458.8(GABBR2):c.1150C>T (p.Arg384Trp)
NM_005458.8(GABBR2):c.1151G>A (p.Arg384Gln) rs1184728895
NM_005458.8(GABBR2):c.115G>T (p.Ala39Ser)
NM_005458.8(GABBR2):c.1198C>G (p.Leu400Val)
NM_005458.8(GABBR2):c.11C>A (p.Pro4Gln) rs1830938515
NM_005458.8(GABBR2):c.11C>T (p.Pro4Leu) rs1830938515
NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) rs1588292057
NM_005458.8(GABBR2):c.1220A>G (p.Asn407Ser) rs1564075329
NM_005458.8(GABBR2):c.1228G>A (p.Gly410Arg)
NM_005458.8(GABBR2):c.1238G>A (p.Gly413Asp) rs2131529814
NM_005458.8(GABBR2):c.123C>G (p.Gly41=) rs2131893076
NM_005458.8(GABBR2):c.1268T>C (p.Met423Thr) rs372195874
NM_005458.8(GABBR2):c.1280A>C (p.Lys427Thr)
NM_005458.8(GABBR2):c.128C>T (p.Ala43Val) rs1830934532
NM_005458.8(GABBR2):c.1304G>T (p.Arg435Met)
NM_005458.8(GABBR2):c.131G>C (p.Arg44Pro)
NM_005458.8(GABBR2):c.1330G>A (p.Ala444Thr)
NM_005458.8(GABBR2):c.1339G>A (p.Asp447Asn)
NM_005458.8(GABBR2):c.1342A>G (p.Thr448Ala)
NM_005458.8(GABBR2):c.1345C>G (p.Leu449Val) rs1832246644
NM_005458.8(GABBR2):c.136G>A (p.Ala46Thr)
NM_005458.8(GABBR2):c.1378+6G>A
NM_005458.8(GABBR2):c.137C>G (p.Ala46Gly) rs753441454
NM_005458.8(GABBR2):c.1386A>T (p.Glu462Asp) rs2131496387
NM_005458.8(GABBR2):c.1424G>T (p.Arg475Leu)
NM_005458.8(GABBR2):c.142C>G (p.Arg48Gly)
NM_005458.8(GABBR2):c.142C>T (p.Arg48Trp)
NM_005458.8(GABBR2):c.1450A>G (p.Ile484Val) rs1554698962
NM_005458.8(GABBR2):c.1474G>A (p.Gly492Arg) rs1184139603
NM_005458.8(GABBR2):c.149C>A (p.Pro50Gln) rs1830933722
NM_005458.8(GABBR2):c.1520G>C (p.Arg507Pro) rs772244503
NM_005458.8(GABBR2):c.1527G>T (p.Gln509His)
NM_005458.8(GABBR2):c.1530G>C (p.Lys510Asn)
NM_005458.8(GABBR2):c.1542G>A (p.Met514Ile)
NM_005458.8(GABBR2):c.1577G>C (p.Gly526Ala)
NM_005458.8(GABBR2):c.1634C>T (p.Ser545Phe)
NM_005458.8(GABBR2):c.163C>T (p.Pro55Ser)
NM_005458.8(GABBR2):c.1643C>T (p.Thr548Ile) rs758213559
NM_005458.8(GABBR2):c.164C>G (p.Pro55Arg) rs760155306
NM_005458.8(GABBR2):c.1656_1657del (p.Cys553fs)
NM_005458.8(GABBR2):c.1660A>G (p.Thr554Ala) rs990511532
NM_005458.8(GABBR2):c.1662+1G>A rs1832058906
NM_005458.8(GABBR2):c.1667G>A (p.Arg556Lys)
NM_005458.8(GABBR2):c.166C>A (p.Leu56Ile) rs1830933309
NM_005458.8(GABBR2):c.1694C>T (p.Thr565Met) rs1564035609
NM_005458.8(GABBR2):c.1738G>T (p.Ala580Ser) rs989871267
NM_005458.8(GABBR2):c.175A>T (p.Met59Leu) rs374226063
NM_005458.8(GABBR2):c.1778A>G (p.Lys593Arg)
NM_005458.8(GABBR2):c.1805G>C (p.Gly602Ala) rs1554695160
NM_005458.8(GABBR2):c.1808G>A (p.Gly603Asp)
NM_005458.8(GABBR2):c.1808G>T (p.Gly603Val) rs1564031721
NM_005458.8(GABBR2):c.1822G>A (p.Asp608Asn) rs978945843
NM_005458.8(GABBR2):c.1828T>C (p.Cys610Arg)
NM_005458.8(GABBR2):c.1880A>G (p.Lys627Arg)
NM_005458.8(GABBR2):c.1885A>G (p.Ser629Gly) rs769481084
NM_005458.8(GABBR2):c.1889T>C (p.Met630Thr) rs1831607786
NM_005458.8(GABBR2):c.1893+3A>G
NM_005458.8(GABBR2):c.1895C>T (p.Pro632Leu) rs775001610
NM_005458.8(GABBR2):c.1904C>T (p.Ala635Val)
NM_005458.8(GABBR2):c.1907G>A (p.Gly636Glu) rs1830630539
NM_005458.8(GABBR2):c.1909C>T (p.Arg637Trp)
NM_005458.8(GABBR2):c.1919C>T (p.Ser640Phe)
NM_005458.8(GABBR2):c.1925G>A (p.Arg642His) rs781275870
NM_005458.8(GABBR2):c.1938G>T (p.Glu646Asp) rs79484588
NM_005458.8(GABBR2):c.1944_1945del (p.Cys648_Glu649delinsTer) rs1564011668
NM_005458.8(GABBR2):c.194C>A (p.Thr65Asn) rs2131892959
NM_005458.8(GABBR2):c.1963A>G (p.Ile655Val)
NM_005458.8(GABBR2):c.1966T>C (p.Trp656Arg)
NM_005458.8(GABBR2):c.1972G>A (p.Gly658Ser) rs2131362006
NM_005458.8(GABBR2):c.1982A>G (p.Tyr661Cys) rs1830628717
NM_005458.8(GABBR2):c.1997T>A (p.Leu666His)
NM_005458.8(GABBR2):c.2002A>G (p.Met668Val) rs2131361931
NM_005458.8(GABBR2):c.2004+4G>A
NM_005458.8(GABBR2):c.2010C>T (p.Phe670=)
NM_005458.8(GABBR2):c.205G>C (p.Ala69Pro) rs1830932556
NM_005458.8(GABBR2):c.2062G>A (p.Asp688Asn) rs1830550022
NM_005458.8(GABBR2):c.2074A>G (p.Ile692Val)
NM_005458.8(GABBR2):c.2099G>A (p.Gly700Glu)
NM_005458.8(GABBR2):c.2122G>A (p.Ala708Thr) rs267602049
NM_005458.8(GABBR2):c.2122G>T (p.Ala708Ser)
NM_005458.8(GABBR2):c.2178G>A (p.Leu726=) rs1830547843
NM_005458.8(GABBR2):c.2229+3A>G
NM_005458.8(GABBR2):c.2229+4C>G
NM_005458.8(GABBR2):c.2273G>A (p.Arg758Lys)
NM_005458.8(GABBR2):c.2276G>A (p.Arg759Gln) rs2131350185
NM_005458.8(GABBR2):c.2290C>G (p.Gln764Glu) rs1830500205
NM_005458.8(GABBR2):c.2308G>A (p.Asp770Asn)
NM_005458.8(GABBR2):c.2313dup (p.Lys772Ter)
NM_005458.8(GABBR2):c.2338G>A (p.Val780Met)
NM_005458.8(GABBR2):c.2348C>G (p.Ala783Gly)
NM_005458.8(GABBR2):c.2360G>A (p.Arg787His) rs578253809
NM_005458.8(GABBR2):c.2367G>C (p.Glu789Asp) rs2131350009
NM_005458.8(GABBR2):c.2396G>A (p.Arg799Gln)
NM_005458.8(GABBR2):c.2411A>C (p.Glu804Ala)
NM_005458.8(GABBR2):c.2413-4_2413-3delinsCC
NM_005458.8(GABBR2):c.2425T>G (p.Leu809Val)
NM_005458.8(GABBR2):c.2443C>A (p.Gln815Lys)
NM_005458.8(GABBR2):c.2452G>A (p.Asp818Asn)
NM_005458.8(GABBR2):c.2461G>A (p.Glu821Lys)
NM_005458.8(GABBR2):c.2467A>G (p.Thr823Ala) rs2131344167
NM_005458.8(GABBR2):c.2471C>G (p.Thr824Ser) rs1830431118
NM_005458.8(GABBR2):c.2487C>A (p.Asn829Lys) rs2131344100
NM_005458.8(GABBR2):c.2497G>C (p.Glu833Gln) rs1369050795
NM_005458.8(GABBR2):c.249G>A (p.Leu83=) rs1257379454
NM_005458.8(GABBR2):c.2504A>G (p.Asn835Ser)
NM_005458.8(GABBR2):c.2510T>A (p.Ile837Asn) rs2131344029
NM_005458.8(GABBR2):c.2526C>G (p.Asn842Lys)
NM_005458.8(GABBR2):c.253A>G (p.Ile85Val) rs1230517696
NM_005458.8(GABBR2):c.2542+3A>G
NM_005458.8(GABBR2):c.2554G>C (p.Ala852Pro)
NM_005458.8(GABBR2):c.255C>G (p.Ile85Met) rs763713514
NM_005458.8(GABBR2):c.2562A>T (p.Leu854Phe)
NM_005458.8(GABBR2):c.2567A>G (p.Asn856Ser) rs1830340895
NM_005458.8(GABBR2):c.2584C>T (p.Pro862Ser) rs891861059
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu) rs1026022583
NM_005458.8(GABBR2):c.2602A>G (p.Thr868Ala)
NM_005458.8(GABBR2):c.2626A>G (p.Lys876Glu) rs758721783
NM_005458.8(GABBR2):c.2636T>C (p.Ile879Thr) rs992384149
NM_005458.8(GABBR2):c.2671C>T (p.Arg891Trp)
NM_005458.8(GABBR2):c.2672G>A (p.Arg891Gln)
NM_005458.8(GABBR2):c.2719A>G (p.Ile907Val)
NM_005458.8(GABBR2):c.271G>A (p.Glu91Lys) rs1830931663
NM_005458.8(GABBR2):c.2734G>A (p.Ala912Thr)
NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1]) rs772966955
NM_005458.8(GABBR2):c.2755_2778dup (p.Val919_Arg926dup) rs2131331420
NM_005458.8(GABBR2):c.2764_2775del (p.Thr922_Pro925del)
NM_005458.8(GABBR2):c.2772C>G (p.Ser924Arg) rs767723805
NM_005458.8(GABBR2):c.2774_2776dup (p.Pro925dup) rs771637982
NM_005458.8(GABBR2):c.2777G>A (p.Arg926His)
NM_005458.8(GABBR2):c.2800T>C (p.Phe934Leu)
NM_005458.8(GABBR2):c.2803C>T (p.Arg935Ter) rs1238294679
NM_005458.8(GABBR2):c.2804G>A (p.Arg935Gln)
NM_005458.8(GABBR2):c.287C>T (p.Pro96Leu) rs1830931329
NM_005458.8(GABBR2):c.321G>A (p.Glu107=) rs773774151
NM_005458.8(GABBR2):c.322T>C (p.Cys108Arg) rs1828946531
NM_005458.8(GABBR2):c.328A>C (p.Asn110His)
NM_005458.8(GABBR2):c.343A>G (p.Lys115Glu)
NM_005458.8(GABBR2):c.34C>A (p.Pro12Thr) rs1229507395
NM_005458.8(GABBR2):c.355G>A (p.Asp119Asn) rs1021777878
NM_005458.8(GABBR2):c.379C>T (p.His127Tyr)
NM_005458.8(GABBR2):c.425T>C (p.Ile142Thr)
NM_005458.8(GABBR2):c.428C>T (p.Ala143Val) rs2131780419
NM_005458.8(GABBR2):c.440A>G (p.Gln147Arg) rs1828944019
NM_005458.8(GABBR2):c.454G>C (p.Val152Leu)
NM_005458.8(GABBR2):c.459+4A>G
NM_005458.8(GABBR2):c.48_59del (p.Pro17_Pro20del) rs1286951382
NM_005458.8(GABBR2):c.491C>A (p.Ala164Asp)
NM_005458.8(GABBR2):c.492C>A (p.Ala164=) rs533637833
NM_005458.8(GABBR2):c.508C>A (p.Pro170Thr)
NM_005458.8(GABBR2):c.512A>T (p.Tyr171Phe)
NM_005458.8(GABBR2):c.52C>T (p.Pro18Ser)
NM_005458.8(GABBR2):c.539A>G (p.Asn180Ser)
NM_005458.8(GABBR2):c.54GCC[3] (p.Pro20dup) rs2131893192
NM_005458.8(GABBR2):c.56C>A (p.Pro19Gln)
NM_005458.8(GABBR2):c.576C>A (p.His192Gln)
NM_005458.8(GABBR2):c.582G>C (p.Gln194His)
NM_005458.8(GABBR2):c.590G>T (p.Arg197Leu)
NM_005458.8(GABBR2):c.592G>A (p.Val198Met)
NM_005458.8(GABBR2):c.620G>C (p.Arg207Thr)
NM_005458.8(GABBR2):c.630+1G>A rs2131740463
NM_005458.8(GABBR2):c.65G>A (p.Arg22His)
NM_005458.8(GABBR2):c.751A>G (p.Ile251Val) rs1588185283
NM_005458.8(GABBR2):c.755T>A (p.Leu252His)
NM_005458.8(GABBR2):c.757G>A (p.Gly253Ser)
NM_005458.8(GABBR2):c.779C>G (p.Ala260Gly)
NM_005458.8(GABBR2):c.792C>A (p.Phe264Leu)
NM_005458.8(GABBR2):c.797G>A (p.Cys266Tyr)
NM_005458.8(GABBR2):c.80T>C (p.Leu27Pro) rs1588292075
NM_005458.8(GABBR2):c.818A>G (p.Tyr273Cys)
NM_005458.8(GABBR2):c.821G>C (p.Gly274Ala)
NM_005458.8(GABBR2):c.824G>A (p.Ser275Asn)
NM_005458.8(GABBR2):c.845C>T (p.Pro282Leu) rs1826722249
NM_005458.8(GABBR2):c.847G>C (p.Gly283Arg)
NM_005458.8(GABBR2):c.853T>C (p.Tyr285His)
NM_005458.8(GABBR2):c.859C>A (p.Pro287Thr) rs1826721917
NM_005458.8(GABBR2):c.860C>T (p.Pro287Leu) rs2131631023
NM_005458.8(GABBR2):c.875A>T (p.Gln292Leu)
NM_005458.8(GABBR2):c.890C>G (p.Ala297Gly) rs1329465359
NM_005458.8(GABBR2):c.89C>A (p.Pro30Gln) rs1830935399
NM_005458.8(GABBR2):c.89_91dup (p.Pro30_Leu31insPro)
NM_005458.8(GABBR2):c.902G>T (p.Arg301Leu)
NM_005458.8(GABBR2):c.90_101dup (p.Leu35_Ala36insLeuLeuProLeu)
NM_005458.8(GABBR2):c.911G>C (p.Arg304Pro)
NM_005458.8(GABBR2):c.916A>T (p.Asn306Tyr)
NM_005458.8(GABBR2):c.920T>G (p.Leu307Arg)
NM_005458.8(GABBR2):c.92TGC[4] (p.Leu33_Pro34insLeu)
NM_005458.8(GABBR2):c.954_959del (p.Asp318_Phe319del) rs1554709553
NM_005458.8(GABBR2):c.967A>T (p.Ser323Cys)
NM_005458.8(GABBR2):c.977A>G (p.Gln326Arg)
NM_005458.8(GABBR2):c.999+3C>T
NM_005458.8(GABBR2):c.999G>C (p.Lys333Asn)

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