ClinVar Miner

List of variants in gene GABBR2 reported as likely benign for Epileptic encephalopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.51A>G (p.Pro17=) rs893078508 0.00045
NM_005458.8(GABBR2):c.48G>A (p.Pro16=) rs1023207573 0.00036
NM_005458.8(GABBR2):c.1662C>T (p.Thr554=) rs144905072 0.00026
NM_005458.8(GABBR2):c.1767G>A (p.Lys589=) rs150053493 0.00026
NM_005458.8(GABBR2):c.1771-9G>A rs77949482 0.00021
NM_005458.8(GABBR2):c.330C>T (p.Asn110=) rs139594158 0.00021
NM_005458.8(GABBR2):c.1044C>T (p.Gly348=) rs151275459 0.00016
NM_005458.8(GABBR2):c.1662+20C>T rs374526767 0.00016
NM_005458.8(GABBR2):c.1384G>A (p.Glu462Lys) rs202080871 0.00014
NM_005458.8(GABBR2):c.1977C>T (p.Ile659=) rs140073399 0.00014
NM_005458.8(GABBR2):c.2318C>T (p.Thr773Met) rs138346207 0.00014
NM_005458.8(GABBR2):c.201G>A (p.Glu67=) rs145012175 0.00013
NM_005458.8(GABBR2):c.2343C>T (p.Asn781=) rs376785497 0.00013
NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro) rs933385444 0.00012
NM_005458.8(GABBR2):c.1071C>T (p.Tyr357=) rs568256004 0.00011
NM_005458.8(GABBR2):c.2631T>C (p.Asp877=) rs141289569 0.00011
NM_005458.8(GABBR2):c.1329C>T (p.Asn443=) rs778274646 0.00010
NM_005458.8(GABBR2):c.1893+17G>A rs79647519 0.00009
NM_005458.8(GABBR2):c.2265G>A (p.Thr755=) rs375061314 0.00009
NM_005458.8(GABBR2):c.1212C>T (p.Asn404=) rs140891913 0.00008
NM_005458.8(GABBR2):c.2295T>C (p.Asn765=) rs201747907 0.00008
NM_005458.8(GABBR2):c.957C>T (p.Phe319=) rs768785875 0.00008
NM_005458.8(GABBR2):c.90G>T (p.Pro30=) rs1039627589 0.00007
NM_005458.8(GABBR2):c.1181C>T (p.Thr394Met) rs76761930 0.00006
NM_005458.8(GABBR2):c.1668G>A (p.Arg556=) rs763017992 0.00006
NM_005458.8(GABBR2):c.324C>T (p.Cys108=) rs145095054 0.00006
NM_005458.8(GABBR2):c.459+18T>G rs371370334 0.00006
NM_005458.8(GABBR2):c.1821C>T (p.Ile607=) rs371719408 0.00005
NM_005458.8(GABBR2):c.1950C>T (p.Asn650=) rs765315126 0.00005
NM_005458.8(GABBR2):c.2529C>T (p.Phe843=) rs765315548 0.00005
NM_005458.8(GABBR2):c.2660+8C>A rs764167824 0.00005
NM_005458.8(GABBR2):c.321+11G>C rs533615750 0.00005
NM_005458.8(GABBR2):c.477C>A (p.Thr159=) rs150681816 0.00005
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp) rs768482972 0.00004
NM_005458.8(GABBR2):c.2076C>T (p.Ile692=) rs141903124 0.00004
NM_005458.8(GABBR2):c.2121C>T (p.Ala707=) rs148077461 0.00004
NM_005458.8(GABBR2):c.2595G>A (p.Gln865=) rs769395669 0.00004
NM_005458.8(GABBR2):c.2618G>A (p.Arg873Gln) rs368856308 0.00004
NM_005458.8(GABBR2):c.2679C>T (p.Ser893=) rs765127236 0.00004
NM_005458.8(GABBR2):c.2786A>G (p.His929Arg) rs374827661 0.00004
NM_005458.8(GABBR2):c.321+16C>A rs539837952 0.00004
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) rs1054346747 0.00004
NM_005458.8(GABBR2):c.606G>A (p.Thr202=) rs200832069 0.00004
NM_005458.8(GABBR2):c.60C>T (p.Pro20=) rs1000877593 0.00004
NM_005458.8(GABBR2):c.612C>T (p.Asp204=) rs142025089 0.00004
NM_005458.8(GABBR2):c.910C>T (p.Arg304Trp) rs56020006 0.00004
NM_005458.8(GABBR2):c.1227C>T (p.Phe409=) rs148029910 0.00003
NM_005458.8(GABBR2):c.1545G>C (p.Ser515=) rs374493679 0.00003
NM_005458.8(GABBR2):c.1836G>A (p.Leu612=) rs751465284 0.00003
NM_005458.8(GABBR2):c.189G>T (p.Pro63=) rs770193688 0.00003
NM_005458.8(GABBR2):c.2703C>T (p.His901=) rs776455748 0.00003
NM_005458.8(GABBR2):c.2776C>T (p.Arg926Cys) rs528154834 0.00003
NM_005458.8(GABBR2):c.441A>C (p.Gln147His) rs759633668 0.00003
NM_005458.8(GABBR2):c.480G>A (p.Thr160=) rs756392600 0.00003
NM_005458.8(GABBR2):c.804C>T (p.Tyr268=) rs749450235 0.00003
NM_005458.8(GABBR2):c.1005A>G (p.Pro335=) rs112301334 0.00002
NM_005458.8(GABBR2):c.1297+14T>C rs751707576 0.00002
NM_005458.8(GABBR2):c.1308G>A (p.Glu436=) rs749742145 0.00002
NM_005458.8(GABBR2):c.1423C>T (p.Arg475Trp) rs375938732 0.00002
NM_005458.8(GABBR2):c.1529+19C>T rs757422808 0.00002
NM_005458.8(GABBR2):c.1530-7T>G rs772567106 0.00002
NM_005458.8(GABBR2):c.1530-8C>T rs1391961866 0.00002
NM_005458.8(GABBR2):c.1771-8C>T rs201679845 0.00002
NM_005458.8(GABBR2):c.2094C>T (p.Asn698=) rs763391651 0.00002
NM_005458.8(GABBR2):c.2169C>T (p.Ile723=) rs749200227 0.00002
NM_005458.8(GABBR2):c.2230-15C>T rs779722077 0.00002
NM_005458.8(GABBR2):c.2319G>A (p.Thr773=) rs747984740 0.00002
NM_005458.8(GABBR2):c.2466G>A (p.Lys822=) rs756618371 0.00002
NM_005458.8(GABBR2):c.2728G>A (p.Val910Met) rs771303727 0.00002
NM_005458.8(GABBR2):c.2766C>T (p.Thr922=) rs548342323 0.00002
NM_005458.8(GABBR2):c.30C>T (p.Pro10=) rs1554727793 0.00002
NM_005458.8(GABBR2):c.369C>T (p.Tyr123=) rs754632417 0.00002
NM_005458.8(GABBR2):c.534A>C (p.Ser178=) rs79679873 0.00002
NM_005458.8(GABBR2):c.781G>A (p.Ala261Thr) rs555622986 0.00002
NM_005458.8(GABBR2):c.831T>C (p.Tyr277=) rs564869712 0.00002
NM_005458.8(GABBR2):c.885G>A (p.Thr295=) rs200940989 0.00002
NM_005458.8(GABBR2):c.103C>T (p.Leu35=) rs1830935072 0.00001
NM_005458.8(GABBR2):c.1095C>T (p.Ile365=) rs964673442 0.00001
NM_005458.8(GABBR2):c.1096G>A (p.Ala366Thr) rs1342775753 0.00001
NM_005458.8(GABBR2):c.1117A>G (p.Met373Val) rs1017426048 0.00001
NM_005458.8(GABBR2):c.1150C>A (p.Arg384=) rs773210565 0.00001
NM_005458.8(GABBR2):c.1182G>A (p.Thr394=) rs779647290 0.00001
NM_005458.8(GABBR2):c.1194C>T (p.Ile398=) rs757999651 0.00001
NM_005458.8(GABBR2):c.1358A>G (p.Asn453Ser) rs376438203 0.00001
NM_005458.8(GABBR2):c.141C>G (p.Pro47=) rs1170259663 0.00001
NM_005458.8(GABBR2):c.1529+7C>T rs371668688 0.00001
NM_005458.8(GABBR2):c.1563C>T (p.Asn521=) rs1326276691 0.00001
NM_005458.8(GABBR2):c.1653A>G (p.Thr551=) rs778577033 0.00001
NM_005458.8(GABBR2):c.1680C>T (p.Leu560=) rs374404921 0.00001
NM_005458.8(GABBR2):c.1695G>A (p.Thr565=) rs761993188 0.00001
NM_005458.8(GABBR2):c.1698C>T (p.Thr566=) rs775385636 0.00001
NM_005458.8(GABBR2):c.1737C>T (p.His579=) rs560132993 0.00001
NM_005458.8(GABBR2):c.1746C>T (p.Phe582=) rs745662893 0.00001
NM_005458.8(GABBR2):c.1770+7A>G rs1263069525 0.00001
NM_005458.8(GABBR2):c.1771-4G>A rs1208296420 0.00001
NM_005458.8(GABBR2):c.1800C>T (p.Ile600=) rs1242527608 0.00001
NM_005458.8(GABBR2):c.1827G>A (p.Leu609=) rs764113280 0.00001
NM_005458.8(GABBR2):c.1851T>C (p.Ala617=) rs1367884140 0.00001
NM_005458.8(GABBR2):c.1865G>A (p.Arg622Gln) rs139429887 0.00001
NM_005458.8(GABBR2):c.1893+9T>C rs1339841740 0.00001
NM_005458.8(GABBR2):c.1911G>A (p.Arg637=) rs146358304 0.00001
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys) rs756391068 0.00001
NM_005458.8(GABBR2):c.1992G>A (p.Lys664=) rs1221811623 0.00001
NM_005458.8(GABBR2):c.2058C>T (p.Leu686=) rs1162481197 0.00001
NM_005458.8(GABBR2):c.2061C>T (p.Asn687=) rs1286722453 0.00001
NM_005458.8(GABBR2):c.2079G>A (p.Gly693=) rs1464116569 0.00001
NM_005458.8(GABBR2):c.2095G>A (p.Val699Met) rs1830549332 0.00001
NM_005458.8(GABBR2):c.2115C>T (p.Ile705=) rs374267671 0.00001
NM_005458.8(GABBR2):c.2127C>T (p.Val709=) rs776899839 0.00001
NM_005458.8(GABBR2):c.2154T>C (p.Asn718=) rs780225675 0.00001
NM_005458.8(GABBR2):c.2220C>T (p.Phe740=) rs754518079 0.00001
NM_005458.8(GABBR2):c.2229+15C>T rs930278779 0.00001
NM_005458.8(GABBR2):c.2229+9G>A rs539015155 0.00001
NM_005458.8(GABBR2):c.2264C>T (p.Thr755Met) rs1304352816 0.00001
NM_005458.8(GABBR2):c.2412+13G>A rs1006006412 0.00001
NM_005458.8(GABBR2):c.2412+3A>G rs74429712 0.00001
NM_005458.8(GABBR2):c.2542+16C>T rs376889851 0.00001
NM_005458.8(GABBR2):c.2543-19A>G rs1230835801 0.00001
NM_005458.8(GABBR2):c.2574C>T (p.Leu858=) rs762613895 0.00001
NM_005458.8(GABBR2):c.2643T>C (p.Asp881=) rs968176642 0.00001
NM_005458.8(GABBR2):c.2661-18C>A rs1260879279 0.00001
NM_005458.8(GABBR2):c.2670T>C (p.Arg890=) rs138830482 0.00001
NM_005458.8(GABBR2):c.2721C>T (p.Ile907=) rs772523931 0.00001
NM_005458.8(GABBR2):c.2754C>T (p.Cys918=) rs756193791 0.00001
NM_005458.8(GABBR2):c.2823G>A (p.Leu941=) rs1830287587 0.00001
NM_005458.8(GABBR2):c.354C>T (p.Tyr118=) rs747923407 0.00001
NM_005458.8(GABBR2):c.384G>A (p.Leu128=) rs762239276 0.00001
NM_005458.8(GABBR2):c.411C>T (p.Ser137=) rs56067237 0.00001
NM_005458.8(GABBR2):c.420C>T (p.Ser140=) rs1004160731 0.00001
NM_005458.8(GABBR2):c.43C>T (p.Pro15Ser) rs1003032218 0.00001
NM_005458.8(GABBR2):c.459+11A>G rs932380002 0.00001
NM_005458.8(GABBR2):c.501A>G (p.Lys167=) rs1441542258 0.00001
NM_005458.8(GABBR2):c.53C>A (p.Pro18Gln) rs1830936972 0.00001
NM_005458.8(GABBR2):c.600G>A (p.Thr200=) rs553850957 0.00001
NM_005458.8(GABBR2):c.630+8C>T rs750566465 0.00001
NM_005458.8(GABBR2):c.630+9G>A rs539049663 0.00001
NM_005458.8(GABBR2):c.733-4A>G rs779284295 0.00001
NM_005458.8(GABBR2):c.798+19T>C rs775875553 0.00001
NM_005458.8(GABBR2):c.855C>T (p.Tyr285=) rs758329114 0.00001
NM_005458.8(GABBR2):c.943A>G (p.Ile315Val) rs769962887 0.00001
NM_005458.8(GABBR2):c.969C>T (p.Ser323=) rs745748763 0.00001
NM_005458.8(GABBR2):c.993A>G (p.Ser331=) rs770674486 0.00001
NC_000009.11:g.(?_101124992_101125835del
NM_005458.8(GABBR2):c.1000-12_1000-11del
NM_005458.8(GABBR2):c.1000-5T>C
NM_005458.8(GABBR2):c.1029C>T (p.Asn343=) rs770947335
NM_005458.8(GABBR2):c.1042G>A (p.Gly348Ser) rs2131603743
NM_005458.8(GABBR2):c.1128G>A (p.Leu376=)
NM_005458.8(GABBR2):c.1155C>T (p.Ile385=)
NM_005458.8(GABBR2):c.1167C>T (p.Asn389=) rs2131603472
NM_005458.8(GABBR2):c.1197C>T (p.Ile399=)
NM_005458.8(GABBR2):c.1204G>A (p.Ala402Thr)
NM_005458.8(GABBR2):c.1206C>T (p.Ala402=) rs2131603340
NM_005458.8(GABBR2):c.1236+10A>T
NM_005458.8(GABBR2):c.1236+13C>T
NM_005458.8(GABBR2):c.1236+14C>T
NM_005458.8(GABBR2):c.1237-17T>C
NM_005458.8(GABBR2):c.1237-18G>T rs2131529859
NM_005458.8(GABBR2):c.1237-18GTTTT[4] rs762098632
NM_005458.8(GABBR2):c.1237-22_1237-18del rs912771584
NM_005458.8(GABBR2):c.1239T>C (p.Gly413=)
NM_005458.8(GABBR2):c.1254G>A (p.Arg418=)
NM_005458.8(GABBR2):c.1258G>A (p.Gly420Arg)
NM_005458.8(GABBR2):c.1287T>C (p.Thr429=) rs2131529653
NM_005458.8(GABBR2):c.1298-4A>G
NM_005458.8(GABBR2):c.12G>C (p.Pro4=) rs1830938419
NM_005458.8(GABBR2):c.12G>T (p.Pro4=)
NM_005458.8(GABBR2):c.1328A>G (p.Asn443Ser) rs2131507509
NM_005458.8(GABBR2):c.132G>A (p.Arg44=)
NM_005458.8(GABBR2):c.1336G>A (p.Ala446Thr) rs1832246999
NM_005458.8(GABBR2):c.1338C>T (p.Ala446=)
NM_005458.8(GABBR2):c.1362C>T (p.Asp454=) rs2131507363
NM_005458.8(GABBR2):c.1378+10G>A
NM_005458.8(GABBR2):c.1378+17_1378+18delinsAA rs2131507270
NM_005458.8(GABBR2):c.1379-14T>C
NM_005458.8(GABBR2):c.1379-16T>C
NM_005458.8(GABBR2):c.1379-20G>A
NM_005458.8(GABBR2):c.1379-8T>C
NM_005458.8(GABBR2):c.1389A>C (p.Pro463=)
NM_005458.8(GABBR2):c.1410C>A (p.Ile470=)
NM_005458.8(GABBR2):c.1449C>T (p.Ser483=) rs1832129255
NM_005458.8(GABBR2):c.1455C>T (p.Leu485=)
NM_005458.8(GABBR2):c.1466C>T (p.Thr489Ile)
NM_005458.8(GABBR2):c.1500C>T (p.Leu500=) rs1832128442
NM_005458.8(GABBR2):c.1503C>T (p.Phe501=)
NM_005458.8(GABBR2):c.1529+13G>C
NM_005458.8(GABBR2):c.1529+14G>A
NM_005458.8(GABBR2):c.1529+17C>T
NM_005458.8(GABBR2):c.1529+17del
NM_005458.8(GABBR2):c.1529+20_1529+22del rs1832127254
NM_005458.8(GABBR2):c.1529+8A>G rs1588135597
NM_005458.8(GABBR2):c.1530-12_1530-11del
NM_005458.8(GABBR2):c.1530-13T>C
NM_005458.8(GABBR2):c.1530-5G>T
NM_005458.8(GABBR2):c.1533C>G (p.Leu511=)
NM_005458.8(GABBR2):c.1545G>A (p.Ser515=) rs374493679
NM_005458.8(GABBR2):c.1545G>T (p.Ser515=)
NM_005458.8(GABBR2):c.1572C>T (p.Ile524=)
NM_005458.8(GABBR2):c.1575T>C (p.Leu525=) rs2131489566
NM_005458.8(GABBR2):c.1581G>A (p.Gly527=)
NM_005458.8(GABBR2):c.1608C>T (p.Leu536=) rs2131489514
NM_005458.8(GABBR2):c.1611T>C (p.Phe537=)
NM_005458.8(GABBR2):c.1620T>C (p.Asp540=)
NM_005458.8(GABBR2):c.1644C>T (p.Thr548=) rs750038687
NM_005458.8(GABBR2):c.1653A>T (p.Thr551=) rs778577033
NM_005458.8(GABBR2):c.165G>T (p.Pro55=) rs2131892997
NM_005458.8(GABBR2):c.1663-10T>C
NM_005458.8(GABBR2):c.1663-11A>G
NM_005458.8(GABBR2):c.1663-21_1663-20del rs1398044515
NM_005458.8(GABBR2):c.1663-4C>G
NM_005458.8(GABBR2):c.1683C>T (p.Thr561=)
NM_005458.8(GABBR2):c.1686G>T (p.Val562=) rs2131462613
NM_005458.8(GABBR2):c.1707G>A (p.Gly569=)
NM_005458.8(GABBR2):c.1717G>A (p.Ala573Thr) rs2131462514
NM_005458.8(GABBR2):c.1746C>A (p.Phe582Leu) rs745662893
NM_005458.8(GABBR2):c.1770+15_1770+17del rs778385295
NM_005458.8(GABBR2):c.1770+17del
NM_005458.8(GABBR2):c.1771-15C>T
NM_005458.8(GABBR2):c.1771-19G>T
NM_005458.8(GABBR2):c.1771-716_1893+5del rs1564031661
NM_005458.8(GABBR2):c.1771-7T>A
NM_005458.8(GABBR2):c.1771-9G>T
NM_005458.8(GABBR2):c.1772T>A (p.Ile591Asn) rs2131445506
NM_005458.8(GABBR2):c.1784A>G (p.Gln595Arg) rs1831610035
NM_005458.8(GABBR2):c.1803G>A (p.Val601=) rs780693472
NM_005458.8(GABBR2):c.1803G>C (p.Val601=) rs780693472
NM_005458.8(GABBR2):c.1803G>T (p.Val601=) rs780693472
NM_005458.8(GABBR2):c.1806G>C (p.Gly602=) rs1831609555
NM_005458.8(GABBR2):c.1825C>G (p.Leu609Val) rs2131445381
NM_005458.8(GABBR2):c.1861C>T (p.Leu621=)
NM_005458.8(GABBR2):c.1863G>T (p.Leu621=)
NM_005458.8(GABBR2):c.1864C>A (p.Arg622=) rs1019993431
NM_005458.8(GABBR2):c.1893+11_1893+34del rs2131445129
NM_005458.8(GABBR2):c.1893+12A>G rs2131445203
NM_005458.8(GABBR2):c.1893+14G>C rs2131445193
NM_005458.8(GABBR2):c.1893+16C>A
NM_005458.8(GABBR2):c.1893+16C>T
NM_005458.8(GABBR2):c.1893+7_1893+35delinsAACAATCAGAAGCTATATAAAGTTGTATACATGTCTTCCCTCCTCAGTAAACTGGGGAGGCCTAGACAGAAAGAAAGCCCATTTTATTTGTGTTCCCTCAGCACCTACCGGGGCCTGGTATGCAGTAGCTACTTAAAAGTCTGATGAATTGAATTGACATGAAAGAATATAAAAAGAAGAAATATAACTCCCATTCCTCTTTGCAGCCTGGGATATTTTTATTACTCTGTGAGACTCCTACCCCACTTTACGTCTGTTTGATAGGGATCGGCTGGGGGATAAATATTTTCGGTGCCAAAGCTGACCTGTATTTCATTCACTTCATGTTTATATATCCCCTCACTCTCCAGAAAAGCTAATGTGATGGAGTAGTTCTGGAAGAGACTCATGGAAAAACAAACAAAACTCAGGCAGAAGCTTAAGAAATATCACCAGGTTTGGTTTTTAACGATTAAAGCCATTTTTAAAG rs2131445123
NM_005458.8(GABBR2):c.1893+8_1893+31del rs2131445138
NM_005458.8(GABBR2):c.1894-10_1894-9del rs780232385
NM_005458.8(GABBR2):c.1902A>G (p.Pro634=) rs2131362162
NM_005458.8(GABBR2):c.1920C>T (p.Ser640=)
NM_005458.8(GABBR2):c.1927C>T (p.Pro643Ser)
NM_005458.8(GABBR2):c.1943G>A (p.Cys648Tyr)
NM_005458.8(GABBR2):c.1978G>A (p.Val660Ile)
NM_005458.8(GABBR2):c.1980C>T (p.Val660=)
NM_005458.8(GABBR2):c.198G>A (p.Lys66=)
NM_005458.8(GABBR2):c.2033C>G (p.Thr678Ser)
NM_005458.8(GABBR2):c.2034C>G (p.Thr678=) rs767121791
NM_005458.8(GABBR2):c.2040C>T (p.Asn680=) rs2131355196
NM_005458.8(GABBR2):c.2053G>A (p.Ala685Thr) rs2131355168
NM_005458.8(GABBR2):c.2054C>T (p.Ala685Val)
NM_005458.8(GABBR2):c.2055A>C (p.Ala685=) rs1411488846
NM_005458.8(GABBR2):c.2075T>C (p.Ile692Thr)
NM_005458.8(GABBR2):c.2093A>G (p.Asn698Ser) rs2131355065
NM_005458.8(GABBR2):c.2115C>A (p.Ile705=)
NM_005458.8(GABBR2):c.2141G>A (p.Arg714Gln) rs1830548460
NM_005458.8(GABBR2):c.2145C>T (p.Asp715=)
NM_005458.8(GABBR2):c.2172G>A (p.Val724=)
NM_005458.8(GABBR2):c.2190C>T (p.Phe730=) rs2131354850
NM_005458.8(GABBR2):c.21C>A (p.Ser7=) rs984433851
NM_005458.8(GABBR2):c.21C>G (p.Ser7=)
NM_005458.8(GABBR2):c.21C>T (p.Ser7=)
NM_005458.8(GABBR2):c.2226G>T (p.Pro742=) rs79435794
NM_005458.8(GABBR2):c.2229+18A>G rs2131354749
NM_005458.8(GABBR2):c.2229+8C>G
NM_005458.8(GABBR2):c.2230-8C>A
NM_005458.8(GABBR2):c.2232C>G (p.Leu744=) rs2131350280
NM_005458.8(GABBR2):c.2239C>T (p.Leu747=) rs2131350264
NM_005458.8(GABBR2):c.2283G>A (p.Gln761=)
NM_005458.8(GABBR2):c.2296C>G (p.Gln766Glu) rs1830500078
NM_005458.8(GABBR2):c.231G>A (p.Val77=)
NM_005458.8(GABBR2):c.2322C>A (p.Ser774=)
NM_005458.8(GABBR2):c.2325C>T (p.Thr775=) rs2131350098
NM_005458.8(GABBR2):c.2328G>T (p.Ser776=)
NM_005458.8(GABBR2):c.234C>A (p.Leu78=)
NM_005458.8(GABBR2):c.237C>T (p.Pro79=) rs757037079
NM_005458.8(GABBR2):c.2385C>T (p.Asn795=) rs778238324
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu) rs950352036
NM_005458.8(GABBR2):c.23G>C (p.Gly8Ala) rs950352036
NM_005458.8(GABBR2):c.2403G>A (p.Lys801=)
NM_005458.8(GABBR2):c.2412+12T>C
NM_005458.8(GABBR2):c.2412+7dup rs752425703
NM_005458.8(GABBR2):c.2413-10del
NM_005458.8(GABBR2):c.2413-14C>A
NM_005458.8(GABBR2):c.2413-6T>C
NM_005458.8(GABBR2):c.2413-8T>C
NM_005458.8(GABBR2):c.2450A>C (p.Gln817Pro)
NM_005458.8(GABBR2):c.2472C>A (p.Thr824=) rs767941134
NM_005458.8(GABBR2):c.2476A>C (p.Ile826Leu) rs1014873104
NM_005458.8(GABBR2):c.2493C>T (p.Tyr831=) rs2131344070
NM_005458.8(GABBR2):c.24G>A (p.Gly8=)
NM_005458.8(GABBR2):c.2514C>T (p.Leu838=)
NM_005458.8(GABBR2):c.2527_2532delinsACAGGTAAGAGCACAGGTAA (p.Phe843fs)
NM_005458.8(GABBR2):c.2542+13G>A
NM_005458.8(GABBR2):c.2542+18C>T
NM_005458.8(GABBR2):c.2542+7G>A rs371247282
NM_005458.8(GABBR2):c.2542+9G>T
NM_005458.8(GABBR2):c.2543-13_2543-11del
NM_005458.8(GABBR2):c.2543-14T>G
NM_005458.8(GABBR2):c.2543-17T>C
NM_005458.8(GABBR2):c.2543-6A>C rs1449186952
NM_005458.8(GABBR2):c.2543-7C>T
NM_005458.8(GABBR2):c.2544T>C (p.Asp848=)
NM_005458.8(GABBR2):c.2553G>A (p.Lys851=)
NM_005458.8(GABBR2):c.2555C>T (p.Ala852Val) rs1830341096
NM_005458.8(GABBR2):c.255C>T (p.Ile85=) rs763713514
NM_005458.8(GABBR2):c.2568T>C (p.Asn856=)
NM_005458.8(GABBR2):c.2571C>A (p.His857Gln)
NM_005458.8(GABBR2):c.2575G>C (p.Asp859His) rs79773606
NM_005458.8(GABBR2):c.2586C>T (p.Pro862=)
NM_005458.8(GABBR2):c.2613C>T (p.Pro871=)
NM_005458.8(GABBR2):c.263T>A (p.Ile88Asn)
NM_005458.8(GABBR2):c.2646A>T (p.Ile882=)
NM_005458.8(GABBR2):c.2660+20G>A
NM_005458.8(GABBR2):c.2661-12C>A
NM_005458.8(GABBR2):c.2664C>T (p.Ile888=) rs371566642
NM_005458.8(GABBR2):c.2667G>A (p.Gln889=) rs2131331775
NM_005458.8(GABBR2):c.2682C>G (p.Leu894=)
NM_005458.8(GABBR2):c.2706C>T (p.Ala902=) rs2131331668
NM_005458.8(GABBR2):c.2733C>T (p.Asp911=)
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) rs1830289381
NM_005458.8(GABBR2):c.2741G>A (p.Cys914Tyr)
NM_005458.8(GABBR2):c.2765C>T (p.Thr922Ile) rs1830288897
NM_005458.8(GABBR2):c.2777G>C (p.Arg926Pro) rs901968471
NM_005458.8(GABBR2):c.280C>A (p.Leu94Met) rs1830931550
NM_005458.8(GABBR2):c.280C>T (p.Leu94=) rs1830931550
NM_005458.8(GABBR2):c.2817G>A (p.Ser939=) rs752078517
NM_005458.8(GABBR2):c.2817G>C (p.Ser939=) rs752078517
NM_005458.8(GABBR2):c.282G>A (p.Leu94=)
NM_005458.8(GABBR2):c.297C>T (p.Leu99=)
NM_005458.8(GABBR2):c.304C>A (p.Arg102=) rs763374888
NM_005458.8(GABBR2):c.306G>A (p.Arg102=)
NM_005458.8(GABBR2):c.306G>C (p.Arg102=)
NM_005458.8(GABBR2):c.321+10C>T
NM_005458.8(GABBR2):c.321+17C>T
NM_005458.8(GABBR2):c.321+20T>C
NM_005458.8(GABBR2):c.322-10T>C rs2131780535
NM_005458.8(GABBR2):c.322-15T>C rs2131780541
NM_005458.8(GABBR2):c.322-20_322-17del
NM_005458.8(GABBR2):c.322-9G>A
NM_005458.8(GABBR2):c.322-9G>T
NM_005458.8(GABBR2):c.339G>A (p.Gly113=)
NM_005458.8(GABBR2):c.339G>C (p.Gly113=) rs766579887
NM_005458.8(GABBR2):c.33G>A (p.Gly11=)
NM_005458.8(GABBR2):c.33G>T (p.Gly11=)
NM_005458.8(GABBR2):c.33GCC[3] (p.Pro18_Pro20del) rs751111546
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup) rs751111546
NM_005458.8(GABBR2):c.33GCC[8] (p.Pro19_Pro20dup) rs751111546
NM_005458.8(GABBR2):c.33GCC[9] (p.Pro18_Pro20dup) rs751111546
NM_005458.8(GABBR2):c.34C>T (p.Pro12Ser) rs1229507395
NM_005458.8(GABBR2):c.372G>A (p.Gly124=) rs776543603
NM_005458.8(GABBR2):c.372G>C (p.Gly124=)
NM_005458.8(GABBR2):c.375T>A (p.Pro125=) rs2808536
NM_005458.8(GABBR2):c.381C>T (p.His127=) rs139973950
NM_005458.8(GABBR2):c.39G>A (p.Pro13=)
NM_005458.8(GABBR2):c.402C>A (p.Val134=)
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr) rs1588236381
NM_005458.8(GABBR2):c.423C>T (p.Ile141=)
NM_005458.8(GABBR2):c.438C>T (p.Leu146=)
NM_005458.8(GABBR2):c.459+12G>A
NM_005458.8(GABBR2):c.459+20C>A
NM_005458.8(GABBR2):c.459+20_459+22del
NM_005458.8(GABBR2):c.460-10T>C rs745358488
NM_005458.8(GABBR2):c.460-17del rs1564109426
NM_005458.8(GABBR2):c.460-20G>A
NM_005458.8(GABBR2):c.460-6T>C rs778633817
NM_005458.8(GABBR2):c.460-8T>C rs2131740671
NM_005458.8(GABBR2):c.480G>C (p.Thr160=)
NM_005458.8(GABBR2):c.492C>T (p.Ala164=)
NM_005458.8(GABBR2):c.495T>C (p.Asp165=)
NM_005458.8(GABBR2):c.513T>C (p.Tyr171=)
NM_005458.8(GABBR2):c.51_56dup (p.Pro20_Ala21insProPro)
NM_005458.8(GABBR2):c.525C>T (p.Thr175=)
NM_005458.8(GABBR2):c.526G>A (p.Val176Ile) rs1160950834
NM_005458.8(GABBR2):c.528C>G (p.Val176=)
NM_005458.8(GABBR2):c.534A>G (p.Ser178=) rs79679873
NM_005458.8(GABBR2):c.543G>A (p.Ala181=)
NM_005458.8(GABBR2):c.561G>C (p.Leu187=)
NM_005458.8(GABBR2):c.573G>A (p.Lys191=)
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser) rs1430262254
NM_005458.8(GABBR2):c.591C>G (p.Arg197=)
NM_005458.8(GABBR2):c.591C>T (p.Arg197=) rs774158039
NM_005458.8(GABBR2):c.606G>C (p.Thr202=) rs200832069
NM_005458.8(GABBR2):c.615T>G (p.Val205=)
NM_005458.8(GABBR2):c.630+9G>C rs539049663
NM_005458.8(GABBR2):c.64C>T (p.Arg22Cys)
NM_005458.8(GABBR2):c.67C>T (p.Leu23=) rs1830936070
NM_005458.8(GABBR2):c.6T>A (p.Ala2=)
NM_005458.8(GABBR2):c.735G>A (p.Gly245=)
NM_005458.8(GABBR2):c.744G>A (p.Val248=)
NM_005458.8(GABBR2):c.745C>A (p.Arg249=)
NM_005458.8(GABBR2):c.759C>A (p.Gly253=) rs1826910024
NM_005458.8(GABBR2):c.764T>C (p.Phe255Ser) rs2131642695
NM_005458.8(GABBR2):c.78A>C (p.Leu26=)
NM_005458.8(GABBR2):c.78A>G (p.Leu26=) rs923485543
NM_005458.8(GABBR2):c.798+16G>C
NM_005458.8(GABBR2):c.798+19T>A
NM_005458.8(GABBR2):c.799-14T>G
NM_005458.8(GABBR2):c.799-17C>T
NM_005458.8(GABBR2):c.799-20A>T
NM_005458.8(GABBR2):c.840C>A (p.Ile280=) rs868643062
NM_005458.8(GABBR2):c.87G>C (p.Leu29=) rs2131893138
NM_005458.8(GABBR2):c.901C>T (p.Arg301Cys)
NM_005458.8(GABBR2):c.912G>T (p.Arg304=)
NM_005458.8(GABBR2):c.921G>A (p.Leu307=) rs2131630838
NM_005458.8(GABBR2):c.948C>A (p.Gly316=) rs369085352
NM_005458.8(GABBR2):c.98T>C (p.Leu33Pro) rs1762573750
NM_005458.8(GABBR2):c.999+10T>C
NM_005458.8(GABBR2):c.999+17C>A
NM_005458.8(GABBR2):c.999+8C>A rs376018425
NM_005458.8(GABBR2):c.999+8C>T
NM_005458.8(GABBR2):c.999+9C>A rs1334305434
NM_005458.8(GABBR2):c.9C>T (p.Ser3=)

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