ClinVar Miner

List of variants in gene AGXT studied for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.846+170C>T rs4675793 0.98913
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_000030.3(AGXT):c.595+100G>A rs12997245 0.35955
NM_000030.3(AGXT):c.777-45C>T rs12478859 0.32606
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.943-117C>T rs10199038 0.30790
NM_000030.3(AGXT):c.846+199G>A rs13030904 0.30492
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.942+127C>T rs111576306 0.15015
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000030.3(AGXT):c.847-83G>T rs11894759 0.12217
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000030.3(AGXT):c.681-94G>A rs141154272 0.01343
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000030.3(AGXT):c.680+130C>T rs78178548 0.00508
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_000030.3(AGXT):c.424-16G>A rs74895925 0.00239
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000030.3(AGXT):c.680+75G>A rs117619103 0.00233
NM_000030.3(AGXT):c.423+45T>G rs117357855 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000030.3(AGXT):c.423+29C>T rs117043148 0.00230
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_000030.3(AGXT):c.166-56C>T rs114401766 0.00090
NM_000030.3(AGXT):c.805C>T (p.Leu269=) rs151131723 0.00070
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000030.3(AGXT):c.*39G>A rs369979466 0.00061
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00051
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) rs180177191 0.00038
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000030.3(AGXT):c.165+44T>A rs58120546 0.00033
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000030.3(AGXT):c.524+6C>A rs770992934 0.00016
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_000030.3(AGXT):c.1071+12C>T rs375775541 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000030.3(AGXT):c.*160G>A rs776483024 0.00006
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His) rs754637713 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
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.762C>T (p.Asp254=) rs375038017 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000030.3(AGXT):c.1170G>A (p.Lys390=) rs899277137 0.00005
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.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 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.795C>T (p.Pro265=) rs760015739 0.00004
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842 0.00004
NM_000030.3(AGXT):c.-14G>A rs376396832 0.00003
NM_000030.3(AGXT):c.1071+13G>A rs758413374 0.00003
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173 0.00003
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 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.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000030.3(AGXT):c.*285G>A rs567385270 0.00001
NM_000030.3(AGXT):c.*52C>G rs547538869 0.00001
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr) rs749568989 0.00001
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.1151T>C (p.Leu384Pro) rs180177165 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) rs180177170 0.00001
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn) rs774651961 0.00001
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) rs767586362 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.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192 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.358+2T>G rs113681235 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000030.3(AGXT):c.371A>C (p.His124Pro) rs180177211 0.00001
NM_000030.3(AGXT):c.375G>C (p.Pro125=) rs754716643 0.00001
NM_000030.3(AGXT):c.40C>T (p.Leu14=) rs2058975287 0.00001
NM_000030.3(AGXT):c.450G>A (p.Leu150=) rs752385061 0.00001
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230 0.00001
NM_000030.3(AGXT):c.510G>A (p.Gly170=) rs965707125 0.00001
NM_000030.3(AGXT):c.525-1G>A rs180177234 0.00001
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000030.3(AGXT):c.596-10C>T rs890462970 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.660C>T (p.Ile220=) rs780078312 0.00001
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr) rs749577985 0.00001
NM_000030.3(AGXT):c.679_680+2del rs180177255 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 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.783T>A (p.His261Gln) rs180177269 0.00001
NM_000030.3(AGXT):c.846+1G>T rs180177281 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000030.3(AGXT):c.882C>T (p.Ala294=) rs757494386 0.00001
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.942G>A (p.Pro314=) rs553429935 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NM_000030.3(AGXT):c.981C>T (p.Pro327=) rs760409952 0.00001
NG_008005.1:g.(14407_14970)_(15375_?)del
NG_008005.1:g.(7706_9235)_(15375_?)del
NG_008005.1:g.(?_5001)_(11460_12190)del
NG_008005.1:g.(?_5001)_(9305_10233)del
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
NM_000030.2(AGXT):c.1072_1079del
NM_000030.2(AGXT):c.[299_307dup;308G>A]
NM_000030.2(AGXT):c.[829_830insA;830C>A]
NM_000030.2:c.1_524del
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T rs2059043450
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) rs756437332
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) rs796052065
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) rs2059038329
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1071+1G>A rs180177158
NM_000030.3(AGXT):c.1072-1G>A
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) rs180177163
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs) rs796052075
NM_000030.3(AGXT):c.1120G>C (p.Asp374His)
NM_000030.3(AGXT):c.1125_1126del (p.Val376fs) rs180177164
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) rs796052066
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) rs180177168
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.165+12G>C rs201989825
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
NM_000030.3(AGXT):c.166-1G>A rs180177177
NM_000030.3(AGXT):c.166-1_172dup
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) rs761756536
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
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.198C>G (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) rs180177182
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) rs796052058
NM_000030.3(AGXT):c.215dup (p.Asn72fs) rs796052069
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)
NM_000030.3(AGXT):c.224del (p.Thr75fs)
NM_000030.3(AGXT):c.22G>C (p.Val8Leu) rs796052057
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>A (p.Ser81Ter) rs180177184
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)
NM_000030.3(AGXT):c.248A>G (p.His83Arg) rs180177186
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) rs2058978388
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) rs796052059
NM_000030.3(AGXT):c.259del (p.Glu87fs)
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
NM_000030.3(AGXT):c.276del (p.Asn92fs) rs180177187
NM_000030.3(AGXT):c.278_279insCACACTT (p.Leu94fs)
NM_000030.3(AGXT):c.279del (p.Leu94fs)
NM_000030.3(AGXT):c.27C>G (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) rs180177189
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) rs180177190
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) rs180177191
NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)
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.2_3delinsAT (p.Met1Asn) rs180177194
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.31C>G (p.Pro11Ala) rs375712696
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.323G>A (p.Trp108Ter) rs180177198
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) rs796052060
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
NM_000030.3(AGXT):c.326G>T (p.Gly109Val) rs180177199
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.32_33del (p.Pro11fs) rs180177201
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.341A>G (p.Asp114Gly) rs1395056195
NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) rs180177208
NM_000030.3(AGXT):c.349dup (p.Glu117fs)
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)
NM_000030.3(AGXT):c.358+163G>T rs11681134
NM_000030.3(AGXT):c.358+1G>T rs796052067
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
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.359-1_382del rs796052070
NM_000030.3(AGXT):c.359-2A>G
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
NM_000030.3(AGXT):c.389del (p.Pro130fs)
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) rs180177213
NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter)
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) rs180177214
NM_000030.3(AGXT):c.40dup (p.Leu14fs)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) rs2058986411
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423+2T>C
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.424-2A>G rs180177219
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) rs1193344118
NM_000030.3(AGXT):c.445del (p.Val149fs) rs180177220
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) rs180177222
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) rs180177223
NM_000030.3(AGXT):c.458T>A (p.Leu153Ter)
NM_000030.3(AGXT):c.460del (p.Thr154fs) rs180177224
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
NM_000030.3(AGXT):c.469G>T (p.Glu157Ter)
NM_000030.3(AGXT):c.469del (p.Glu157fs)
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.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) rs180177227
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
NM_000030.3(AGXT):c.483C>G (p.Gly161=) rs757583201
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu) rs528938116
NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) rs180177231
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) rs180177232
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) rs180177233
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)
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.536T>C (p.Leu179Pro)
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.551C>A (p.Ser184Ter)
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) rs180177237
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
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.579_580del (p.Tyr194fs)
NM_000030.3(AGXT):c.583A>C (p.Met195Leu) rs180177243
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.593A>C (p.Gln198Pro)
NM_000030.3(AGXT):c.595+1G>A
NM_000030.3(AGXT):c.595+1G>T
NM_000030.3(AGXT):c.595+2T>G
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) rs796052062
NM_000030.3(AGXT):c.596-1G>A
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
NM_000030.3(AGXT):c.598A>G (p.Ile200Val)
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) rs536352238
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) rs180177247
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) rs180177248
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) rs180177248
NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) rs180177250
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
NM_000030.3(AGXT):c.642_645del (p.Pro215fs) rs180177251
NM_000030.3(AGXT):c.642del (p.Pro215fs) rs2106429906
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.658A>T (p.Ile220Phe)
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) rs180177254
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.680+1G>A rs111996685
NM_000030.3(AGXT):c.680+1G>C rs111996685
NM_000030.3(AGXT):c.680+1G>T
NM_000030.3(AGXT):c.680+2T>A rs111742810
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA rs1553648931
NM_000030.3(AGXT):c.680+5G>C rs180177256
NM_000030.3(AGXT):c.681-1G>A
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter)
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) rs121908527
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)
NM_000030.3(AGXT):c.716_718del (p.Ser239del)
NM_000030.3(AGXT):c.725dup (p.Asp243fs) rs180177257
NM_000030.3(AGXT):c.727G>C (p.Asp243His) rs180177258
NM_000030.3(AGXT):c.731T>A (p.Ile244Asn)
NM_000030.3(AGXT):c.733_734del (p.Lys245fs)
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.744del (p.Asn249fs) rs180177261
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) rs180177262
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) rs180177263
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.766del (p.Gln256fs)
NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)
NM_000030.3(AGXT):c.776+1G>A rs180177265
NM_000030.3(AGXT):c.776+1G>C rs180177265
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) rs180177268
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs) rs180177270
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) rs180177272
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)
NM_000030.3(AGXT):c.834del (p.Ile279fs) rs180177276
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.838del (p.Ala280fs) rs2106430924
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.83del (p.Pro28fs) rs180177278
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) rs180177279
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.3(AGXT):c.846+1G>A rs180177281
NM_000030.3(AGXT):c.846+646_942+139del
NM_000030.3(AGXT):c.846G>C (p.Gln282His) rs180177284
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.851T>C (p.Leu284Pro) rs180177287
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) rs180177288
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr) rs180177289
NM_000030.3(AGXT):c.876C>A (p.Arg292=) rs763852365
NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del) rs180177291
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) rs180177293
NM_000030.3(AGXT):c.919del (p.Leu307fs) rs180177295
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) rs180177296
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
NM_000030.3(AGXT):c.942+1G>T rs180177297
NM_000030.3(AGXT):c.943-1G>A rs180177298
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) rs796052063
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) rs180177299
NM_000030.3(AGXT):c.959_960del (p.Thr320fs) rs796052074
NM_000030.3(AGXT):c.971_972del (p.Val324fs) rs180177300
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.994_995del (p.Trp332fs)
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) rs180177303
NM_000030.3(AGXT):c.[32C>T;836T>C]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.