List of variants in gene AGXT reported as likely pathogenic for brain disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 133

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	0.00067
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	rs774030578	0.00011
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)	rs146525143	0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	rs180177180	0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00006
NM_000030.3(AGXT):c.353G>A (p.Arg118His)	rs138025751	0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	0.00005
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	rs180177239	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	rs180177227	0.00003
NM_000030.3(AGXT):c.847-3C>G	rs180177286	0.00003
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	rs180177157	0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	rs121908522	0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	rs180177207	0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	rs180177238	0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	rs180177253	0.00002
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)	rs569643246	0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	rs180177166	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)	rs113879010	0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	rs180177184	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)	rs886055840	0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)	rs786204545	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)	rs180177294	0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs)	rs180177301	0.00001
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	rs180177155
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.1072-1G>A
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)	rs180177160
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.126del (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	rs180177172
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)	rs121908521
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)	rs180177183
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)	rs2058978388
NM_000030.3(AGXT):c.259del (p.Glu87fs)
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
NM_000030.3(AGXT):c.279del (p.Leu94fs)
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)	rs180177193
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000030.3(AGXT):c.305T>A (p.Val102Asp)	rs1304689724
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)	rs2106427288
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)	rs747043550
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)	rs747043550
NM_000030.3(AGXT):c.359-2A>G
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)	rs2058986184
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
NM_000030.3(AGXT):c.389del (p.Pro130fs)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)	rs2058986411
NM_000030.3(AGXT):c.423+1G>A	rs1553648493
NM_000030.3(AGXT):c.423+2T>C
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)	rs180177217
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)	rs1193344118
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	rs2106428650
NM_000030.3(AGXT):c.524+2T>A	rs1553648568
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)	rs1400552764
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)	rs180177236
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	rs180177244
NM_000030.3(AGXT):c.595+1G>A
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)	rs180177252
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)	rs180177253
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	rs1057516896
NM_000030.3(AGXT):c.681-1G>A
NM_000030.3(AGXT):c.681-1G>T	rs112673831
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)	rs1553648979
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	rs796052072
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	rs180177264
NM_000030.3(AGXT):c.776+2T>G	rs1553649007
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
NM_000030.3(AGXT):c.781C>G (p.His261Asp)	rs778567956
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
NM_000030.3(AGXT):c.838del (p.Ala280fs)	rs2106430924
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000030.3(AGXT):c.847-2_847-1del	rs1553649375
NM_000030.3(AGXT):c.848del
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)	rs180177292
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
NM_000030.3(AGXT):c.943-1G>T	rs180177298
NM_000030.3(AGXT):c.973del (p.Ala325fs)	rs2059037657
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	rs180177302
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	rs796052064

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