List of variants in gene AGXT reported as pathogenic by Invitae

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: 108

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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.454T>A (p.Phe152Ile)	rs121908524	0.00016
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	rs121908525	0.00006
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	rs121908523	0.00004
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.139G>A (p.Gly47Arg)	rs180177173	0.00003
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.466G>A (p.Gly156Arg)	rs121908530	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.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.358+2T>G	rs113681235	0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)	rs180177210	0.00001
NM_000030.3(AGXT):c.525-1G>A	rs180177234	0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)	rs180177246	0.00001
NM_000030.3(AGXT):c.679_680+2del	rs180177255	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000030.3(AGXT):c.846+1G>T	rs180177281	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
NC_000002.11:g.(?_241808273)_(241812476_?)del
NC_000002.11:g.(?_241816944)_(241817059_?)del
NC_000002.11:g.(?_241816944)_(241818248_?)del
NC_000002.11:g.(?_241818121)_(241818248_?)del
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	rs180177155
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.1129_1130dup (p.Glu378fs)
NM_000030.3(AGXT):c.1153C>T (p.Gln385Ter)
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.126del (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.175G>T (p.Glu59Ter)	rs767586362
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)	rs121908521
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)	rs180177185
NM_000030.3(AGXT):c.252_253del (p.Ala85fs)
NM_000030.3(AGXT):c.26_27insA (p.Lys12fs)	rs2106427278
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)	rs180177189
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)	rs180177194
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter)	rs180177198
NM_000030.3(AGXT):c.324G>A (p.Trp108Ter)
NM_000030.3(AGXT):c.327del (p.Gln110fs)	rs180177200
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.32_33insT (p.Lys12fs)
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)	rs180177202
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.358+1G>T	rs796052067
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)	rs2058986184
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	rs180177221
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)	rs121908530
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter)	rs180177225
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.473del (p.Ser158fs)
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	rs180177227
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.508G>C (p.Gly170Arg)
NM_000030.3(AGXT):c.525-2A>G	rs1452455390
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.529A>T (p.Lys177Ter)
NM_000030.3(AGXT):c.570del (p.Thr191fs)	rs180177240
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	rs180177244
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)	rs180177248
NM_000030.3(AGXT):c.626del (p.Lys209fs)
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)	rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.665dup (p.Ser223fs)
NM_000030.3(AGXT):c.673A>T (p.Lys225Ter)
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	rs1057516896
NM_000030.3(AGXT):c.67C>T (p.Gln23Ter)	rs1575707182
NM_000030.3(AGXT):c.725dup (p.Asp243fs)	rs180177257
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	rs180177259
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)	rs121908528
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	rs180177264
NM_000030.3(AGXT):c.760_761insT (p.Asp254fs)
NM_000030.3(AGXT):c.776+1G>A	rs180177265
NM_000030.3(AGXT):c.776+1G>C	rs180177265
NM_000030.3(AGXT):c.795del (p.Val266fs)	rs2106430885
NM_000030.3(AGXT):c.823_824del (p.Ser275fs)	rs180177273
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)	rs180177273
NM_000030.3(AGXT):c.832del (p.Leu278fs)	rs2106430919
NM_000030.3(AGXT):c.841G>T (p.Glu281Ter)	rs1575711244
NM_000030.3(AGXT):c.856delinsCC (p.Asn286fs)
NM_000030.3(AGXT):c.942+1G>A	rs180177297
NM_000030.3(AGXT):c.942+1G>T	rs180177297
NM_000030.3(AGXT):c.960del (p.Val321fs)
NM_000030.3(AGXT):c.971_972del (p.Val324fs)	rs180177300
NM_000030.3(AGXT):c.973del (p.Ala325fs)	rs2059037657
NM_000030.3(AGXT):c.983dup (p.Gly329fs)
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	rs796052064
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)	rs180177303

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