ClinVar Miner

List of variants in gene GABRD studied for EIG1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000001.10:g.(?_1950843)_(1961741_?)dup
NC_000001.11:g.(?_2019404)_(2030302_?)del
NC_000001.11:g.(?_2024922)_(2030302_?)dup
NM_000815.5(GABRD):c.1002C>T (p.Asn334=) rs41315330
NM_000815.5(GABRD):c.1003G>A (p.Ala335Thr)
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn) rs1200416339
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro) rs749316684
NM_000815.5(GABRD):c.102C>T (p.Ser34=) rs140855313
NM_000815.5(GABRD):c.1060-7C>T rs368961588
NM_000815.5(GABRD):c.1060-8T>A rs76809996
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu) rs1031482653
NM_000815.5(GABRD):c.1089C>G (p.Phe363Leu)
NM_000815.5(GABRD):c.1104C>T (p.Ala368=) rs28398772
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) rs759836961
NM_000815.5(GABRD):c.1105G>T (p.Gly369Cys)
NM_000815.5(GABRD):c.1107C>A (p.Gly369=) rs148300882
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile) rs1057519556
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp) rs754636335
NM_000815.5(GABRD):c.1136G>A (p.Arg379Gln)
NM_000815.5(GABRD):c.1146C>A (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1146C>T (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser) rs79386457
NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu)
NM_000815.5(GABRD):c.1152G>A (p.Pro384=) rs77557135
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu) rs753657631
NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala) rs372742962
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly) rs1553123940
NM_000815.5(GABRD):c.1183G>C (p.Gly395Arg)
NM_000815.5(GABRD):c.1194_1195del (p.Glu400fs)
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg) rs1571033517
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg) rs116604393
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met) rs116604393
NM_000815.5(GABRD):c.1219G>A (p.Ala407Thr) rs143031542
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys) rs200430448
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys) rs370735082
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp) rs200019257
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys) rs1002172902
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val) rs866487320
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile) rs756881793
NM_000815.5(GABRD):c.1330G>A (p.Val444Ile)
NM_000815.5(GABRD):c.1343C>T (p.Ala448Val)
NM_000815.5(GABRD):c.1344G>A (p.Ala448=) rs144369244
NM_000815.5(GABRD):c.136G>A (p.Gly46Arg)
NM_000815.5(GABRD):c.137G>A (p.Gly46Glu)
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly) rs1207791272
NM_000815.5(GABRD):c.177C>T (p.Ile59=) rs779883280
NM_000815.5(GABRD):c.178G>A (p.Gly60Arg)
NM_000815.5(GABRD):c.189C>A (p.Pro63=)
NM_000815.5(GABRD):c.263C>T (p.Thr88Met) rs373508468
NM_000815.5(GABRD):c.264G>A (p.Thr88=) rs200593470
NM_000815.5(GABRD):c.318C>T (p.Asn106=) rs149832567
NM_000815.5(GABRD):c.367G>A (p.Asp123Asn)
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu) rs201306411
NM_000815.5(GABRD):c.405C>T (p.His135=) rs61742636
NM_000815.5(GABRD):c.406G>A (p.Asp136Asn)
NM_000815.5(GABRD):c.414G>A (p.Thr138=) rs77892827
NM_000815.5(GABRD):c.425A>G (p.Lys142Arg)
NM_000815.5(GABRD):c.444C>T (p.Pro148=) rs373608463
NM_000815.5(GABRD):c.448G>A (p.Gly150Ser)
NM_000815.5(GABRD):c.470+6C>T rs202225187
NM_000815.5(GABRD):c.471-8C>A rs748813137
NM_000815.5(GABRD):c.492C>T (p.Cys164=) rs367776284
NM_000815.5(GABRD):c.522C>T (p.Asp174=) rs534661864
NM_000815.5(GABRD):c.554-7C>T rs773941254
NM_000815.5(GABRD):c.555C>T (p.Tyr185=) rs201112862
NM_000815.5(GABRD):c.577G>A (p.Val193Ile) rs143115257
NM_000815.5(GABRD):c.591G>A (p.Ser197=) rs756079485
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn) rs779793371
NM_000815.5(GABRD):c.60C>G (p.Arg20=) rs1337443605
NM_000815.5(GABRD):c.612C>T (p.His204=) rs375272573
NM_000815.5(GABRD):c.61G>A (p.Gly21Ser)
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg) rs1557447332
NM_000815.5(GABRD):c.649A>T (p.Thr217Ser)
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846
NM_000815.5(GABRD):c.65C>T (p.Thr22Ile)
NM_000815.5(GABRD):c.668C>T (p.Thr223Met) rs369511458
NM_000815.5(GABRD):c.669G>A (p.Thr223=)
NM_000815.5(GABRD):c.68+10C>T rs994082959
NM_000815.5(GABRD):c.68+5G>C rs1571022283
NM_000815.5(GABRD):c.684C>T (p.Phe228=) rs558718893
NM_000815.5(GABRD):c.690C>T (p.Ser230=)
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro) rs1248355743
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp) rs150097692
NM_000815.5(GABRD):c.744C>G (p.Gly248=) rs760689938
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731
NM_000815.5(GABRD):c.780G>C (p.Leu260=) rs369231950
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser) rs759523853
NM_000815.5(GABRD):c.831C>T (p.Pro277=) rs148120771
NM_000815.5(GABRD):c.847+5G>A
NM_000815.5(GABRD):c.848-9G>A
NM_000815.5(GABRD):c.84C>T (p.Ile28=) rs769857211
NM_000815.5(GABRD):c.867G>A (p.Thr289=) rs150619024
NM_000815.5(GABRD):c.87C>T (p.Gly29=) rs79685811
NM_000815.5(GABRD):c.928C>T (p.Leu310=) rs745961044
NM_000815.5(GABRD):c.942C>T (p.Phe314=) rs139676179
NM_000815.5(GABRD):c.969C>A (p.Ala323=) rs146381127
NM_000815.5(GABRD):c.969C>T (p.Ala323=) rs146381127
NM_000815.5(GABRD):c.96G>C (p.Val32=) rs773911493
NM_000815.5(GABRD):c.972C>G (p.Ala324=) rs368765147
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly)

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