ClinVar Miner

List of variants reported as pathogenic by Clinical Biochemistry Laboratory, Health Services Laboratory

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 313
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) rs180177191 0.00038
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
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_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 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_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) rs80358217 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_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 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_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 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_000498.3(CYP11B2):c.954G>A (p.Thr318=) rs760329766 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 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.1151T>C (p.Leu384Pro) rs180177165 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.125G>A (p.Gly42Glu) rs180177170 0.00001
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) rs767586362 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.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.497T>C (p.Leu166Pro) rs180177230 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.783T>A (p.His261Gln) rs180177269 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
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) rs104894153 0.00001
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016 0.00001
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684 0.00001
NM_000497.4(CYP11B1):c.596-2A>T rs775946442 0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304 0.00001
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) rs180177305 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) rs796052079 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) rs746419489 0.00001
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) rs267606763 0.00001
NM_138413.4(HOGA1):c.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) rs756489804 0.00001
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) rs777046879 0.00001
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.1007T>A (p.Val336Asp) rs180177155
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.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1071+1G>A rs180177158
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
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.1148C>A (p.Ala383Asp) rs796052066
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.166-1G>A rs180177177
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
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.22G>C (p.Val8Leu) rs796052057
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) rs180177184
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.254C>A (p.Ala85Asp) rs796052059
NM_000030.3(AGXT):c.276del (p.Asn92fs) rs180177187
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.28_29delinsA (p.Pro10fs)
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>G (p.Pro11Arg) 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.346G>T (p.Gly116Trp)
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) rs180177208
NM_000030.3(AGXT):c.358+1G>T rs796052067
NM_000030.3(AGXT):c.359-1_382del rs796052070
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.40dup (p.Leu14fs)
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) rs180177217
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.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.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.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.533G>A (p.Cys178Tyr) rs180177235
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.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.593A>C (p.Gln198Pro)
NM_000030.3(AGXT):c.595+2T>G
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) rs796052062
NM_000030.3(AGXT):c.596-2A>G rs180177245
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.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.661T>C (p.Ser221Pro) rs180177254
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
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.682_683delAA (p.Lys228fs)
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) rs121908527
NM_000030.3(AGXT):c.725dup (p.Asp243fs) rs180177257
NM_000030.3(AGXT):c.727G>C (p.Asp243His) rs180177258
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.776+1G>A rs180177265
NM_000030.3(AGXT):c.776+1G>C rs180177265
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) rs180177268
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.807dup (p.Tyr270fs)
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.830delinsAA (p.Ala277fs)
NM_000030.3(AGXT):c.834del (p.Ile279fs) rs180177276
NM_000030.3(AGXT):c.83del (p.Pro28fs) rs180177278
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) rs180177279
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.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.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.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.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.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_000030.3(AGXT):c.[32C>T;836T>C]
NM_000044.6(AR):c.2710G>T (p.Val904Leu) rs2147540656
NM_000197.2(HSD17B3):c.201+1G>A
NM_000197.2(HSD17B3):c.202-1G>A rs1378603446
NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080
NM_000198.4(HSD3B2):c.65dup (p.Leu22fs) rs1266831898
NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs) rs754609778
NM_000198.4(HSD3B2):c.947G>A (p.Arg316His)
NM_000348.4(SRD5A2):c.311G>A (p.Gly104Glu)
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
NM_000348.4(SRD5A2):c.574G>A (p.Ala192Thr)
NM_000348.4(SRD5A2):c.587G>A (p.Gly196Asp)
NM_000348.4(SRD5A2):c.698+1G>T
NM_000348.4(SRD5A2):c.699-1G>A
NM_000348.4(SRD5A2):c.743C>A (p.Ala248Asp)
NM_000348.4(SRD5A2):c.80_87del (p.Val27fs)
NM_000497.4(CYP11B1):c.359_363dup (p.His122fs)
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)
NM_000498.3(CYP11B2):c.1276C>T (p.Gln426Ter) rs2130324802
NM_000498.3(CYP11B2):c.1460dup (p.Ile488fs)
NM_000498.3(CYP11B2):c.1471C>T (p.Pro491Ser)
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
NM_000498.3(CYP11B2):c.542G>C (p.Arg181Pro)
NM_000498.3(CYP11B2):c.545_546dup (p.Ser183fs) rs771908700
NM_000498.3(CYP11B2):c.546dup (p.Ser183fs)
NM_000498.3(CYP11B2):c.780G>A (p.Trp260Ter)
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)
NM_000498.3(CYP11B2):c.793C>T (p.Gln265Ter)
NM_000498.3(CYP11B2):c.954G>C (p.Thr318=)
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.103del (p.Asp35fs) rs80356708
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.288-2_288del rs796052081
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.493+2T>A rs180177313
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
NM_012203.2(GRHPR):c.84-2A>G rs180177319
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) rs180177325
NM_017545.3(HAO1):c.493G>T (p.Gly165Cys)
NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp)
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.158del (p.Asp53fs) rs796052091
NM_138413.4(HOGA1):c.186_187del (p.His62fs)
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter)
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.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)
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.728C>A (p.Ala243Asp) rs796052085
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile) rs755562733
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter)
NM_138413.4(HOGA1):c.803_805del (p.Leu268del) rs796052092
NM_138413.4(HOGA1):c.85G>T (p.Glu29Ter)
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu)
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) rs796052087
NM_138413.4(HOGA1):c.881G>A (p.Trp294Ter)
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter)

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