ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Clinical Biochemistry Laboratory,Health Services Laboratory

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 317
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HGVS dbSNP
Multiple alleles
NC_000002.12:g.(?_239048168)_(240879119_?)del
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
NM_000030.2(AGXT):c.[299_307dup;308G>A]
NM_000030.2(AGXT):c.[829_830insA;830C>A]
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) rs756437332
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) rs796052065
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1071+1G>A rs180177158
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162
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.1125_1126del (p.Val376fs) rs180177164
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) rs796052066
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) rs180177165
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) rs180177168
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) rs180177170
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.165+44T>A rs58120546
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.166-1G>A rs180177177
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-56C>T rs114401766
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) rs767586362
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
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.22G>C (p.Val8Leu) rs796052057
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) rs180177184
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.248A>G (p.His83Arg) rs180177186
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) rs796052059
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.276del (p.Asn92fs) rs180177187
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) rs180177189
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) rs180177190
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) rs180177191
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
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>T (p.Trp108Cys) rs796052060
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.332G>A (p.Arg111Gln) rs180177203
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.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) rs180177208
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.358+1G>T rs796052067
NM_000030.3(AGXT):c.358+2T>G rs113681235
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.359-1_382del rs796052070
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210
NM_000030.3(AGXT):c.371A>C (p.His124Pro) rs180177211
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) rs180177213
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) rs180177214
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000030.3(AGXT):c.423+29C>T rs117043148
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423+45T>G rs117357855
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.424-16G>A rs74895925
NM_000030.3(AGXT):c.424-2A>G rs180177219
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.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) rs180177223
NM_000030.3(AGXT):c.460del (p.Thr154fs) rs180177224
NM_000030.3(AGXT):c.466G>A (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.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) rs180177227
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
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+91C>T rs10196315
NM_000030.3(AGXT):c.525-1G>A rs180177234
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) rs180177237
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
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.583A>C (p.Met195Leu) rs180177243
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) rs796052062
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246
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.613T>C (p.Ser205Pro) rs121908520
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.628G>C (p.Ala210Pro) rs180177250
NM_000030.3(AGXT):c.642_645del (p.Pro215fs) rs180177251
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
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.679_680+2del rs180177255
NM_000030.3(AGXT):c.680+130C>T rs78178548
NM_000030.3(AGXT):c.680+17C>T rs11693280
NM_000030.3(AGXT):c.680+1G>A rs111996685
NM_000030.3(AGXT):c.680+1G>C rs111996685
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.680+75G>A rs117619103
NM_000030.3(AGXT):c.681-94G>A rs141154272
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) rs121908527
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
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>C (p.Ile244Thr) rs121908525
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.742G>T (p.Ala248Ser) rs180177260
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.776+1G>A rs180177265
NM_000030.3(AGXT):c.776+1G>C rs180177265
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.777-44A>G rs12464426
NM_000030.3(AGXT):c.777-45C>T rs12478859
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) rs180177268
NM_000030.3(AGXT):c.783T>A (p.His261Gln) rs180177269
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs) rs180177270
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143
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.834del (p.Ile279fs) rs180177276
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.83del (p.Pro28fs) rs180177278
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+1G>T rs180177281
NM_000030.3(AGXT):c.846+52G>A rs12695032
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.847-3C>G rs180177286
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.865C>T (p.Arg289Cys) rs180177290
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
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.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.919del (p.Leu307fs) rs180177295
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) rs180177296
NM_000030.3(AGXT):c.942+1G>T rs180177297
NM_000030.3(AGXT):c.943-117C>T rs10199038
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.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.976G>A (p.Val326Ile) rs115057148
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) rs180177303
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) rs180177305
NM_012203.2(GRHPR):c.215-11C>T rs796052076
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) rs672601351
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) rs796052078
NM_012203.2(GRHPR):c.288-11C>T rs2736664
NM_012203.2(GRHPR):c.288-2_288del rs796052081
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307
NM_012203.2(GRHPR):c.375del (p.Leu126fs) rs180177308
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.45del (p.Ala17fs) rs180177311
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312
NM_012203.2(GRHPR):c.493+27C>T rs146896070
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.494-68A>G rs309459
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.579= (p.Ala193=) rs309458
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458
NM_012203.2(GRHPR):c.598+145G>T rs72739643
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
NM_012203.2(GRHPR):c.734+9G>A rs56401536
NM_012203.2(GRHPR):c.735-1G>A rs180177317
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly) rs180177318
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) rs796052079
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.84-2A>G rs180177319
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) rs180177325
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) rs746419489
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.158del (p.Asp53fs) rs796052091
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) rs267606763
NM_138413.4(HOGA1):c.212-21A>G rs11817730
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) rs796052089
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.341-82del rs796052083
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456
NM_138413.4(HOGA1):c.469-13C>T rs750664684
NM_138413.4(HOGA1):c.469-25C>T rs7078003
NM_138413.4(HOGA1):c.469-31C>T rs75929214
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) rs796052090
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589
NM_138413.4(HOGA1):c.700+5G>T rs185803104
NM_138413.4(HOGA1):c.700+67G>A rs2297643
NM_138413.4(HOGA1):c.701-18G>C rs201596675
NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp) rs796052085
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile) rs755562733
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764
NM_138413.4(HOGA1):c.803_805del (p.Leu268del) rs796052092
NM_138413.4(HOGA1):c.834+42G>T rs115279832
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) rs756489804
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) rs796052087
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) rs777046879
Single allele

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