ClinVar Miner

List of variants reported as likely benign for inherited glutathione metabolism disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 365
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.171+6C>A rs117389174 0.00370
NM_017570.5(OPLAH):c.2792A>G (p.Gln931Arg) rs200702041 0.00262
NM_000178.4(GSS):c.768-3C>T rs184506175 0.00186
NM_000178.4(GSS):c.973C>T (p.Pro325Ser) rs11905938 0.00159
NM_017570.5(OPLAH):c.154C>T (p.Arg52Cys) rs182298526 0.00140
NM_000178.4(GSS):c.988C>T (p.Arg330Cys) rs148640446 0.00132
NM_017570.5(OPLAH):c.1318A>G (p.Asn440Asp) rs200098915 0.00111
NM_017570.5(OPLAH):c.902C>G (p.Thr301Ser) rs187064052 0.00099
NM_017570.5(OPLAH):c.1918G>A (p.Gly640Ser) rs201454549 0.00095
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794 0.00081
NM_017570.5(OPLAH):c.1501C>T (p.Arg501Trp) rs147294871 0.00078
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304 0.00066
NM_000178.4(GSS):c.491+18C>G rs200511586 0.00065
NM_017570.5(OPLAH):c.2096+8G>A rs372984548 0.00053
NM_017570.5(OPLAH):c.684C>T (p.Ile228=) rs376370162 0.00052
NM_017570.5(OPLAH):c.1933C>T (p.Arg645Cys) rs201475103 0.00051
NM_017570.5(OPLAH):c.3117G>T (p.Leu1039=) rs191777983 0.00050
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00048
NM_017570.5(OPLAH):c.3462-4G>A rs376545521 0.00047
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=) rs372144482 0.00044
NM_017570.5(OPLAH):c.1844+18T>G rs368003692 0.00040
NM_000178.4(GSS):c.468C>T (p.Ala156=) rs79420079 0.00036
NM_017570.5(OPLAH):c.36C>T (p.Ile12=) rs532622317 0.00035
NM_000178.4(GSS):c.768-7G>A rs371625892 0.00026
NM_017570.5(OPLAH):c.145G>A (p.Glu49Lys) rs782616822 0.00026
NM_017570.5(OPLAH):c.573C>G (p.Leu191=) rs375794631 0.00025
NM_000178.4(GSS):c.689+17G>A rs79680633 0.00021
NM_000178.4(GSS):c.707G>A (p.Arg236Gln) rs34239729 0.00021
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=) rs373638784 0.00020
NM_000178.4(GSS):c.1301+14G>C rs200219120 0.00019
NM_017570.5(OPLAH):c.2665G>A (p.Gly889Arg) rs149290437 0.00017
NM_000178.4(GSS):c.399C>T (p.Ser133=) rs181055807 0.00015
NM_017570.5(OPLAH):c.3019-14C>T rs782045532 0.00015
NM_017570.5(OPLAH):c.3808C>T (p.Leu1270=) rs776933028 0.00015
NM_017570.5(OPLAH):c.3820G>A (p.Glu1274Lys) rs371840526 0.00014
NM_017570.5(OPLAH):c.714C>T (p.Asp238=) rs372974283 0.00014
NM_017570.5(OPLAH):c.3154-20G>T rs573174529 0.00012
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=) rs373169020 0.00012
NM_000178.4(GSS):c.246C>T (p.Asn82=) rs375957984 0.00011
NM_017570.5(OPLAH):c.1521G>A (p.Thr507=) rs374886908 0.00010
NM_017570.5(OPLAH):c.2004G>A (p.Glu668=) rs375262758 0.00010
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=) rs201482072 0.00010
NM_017570.5(OPLAH):c.702G>A (p.Thr234=) rs782320409 0.00009
NM_000178.4(GSS):c.1276C>T (p.Leu426=) rs374393467 0.00008
NM_017570.5(OPLAH):c.1455G>A (p.Leu485=) rs376985340 0.00008
NM_017570.5(OPLAH):c.2952G>A (p.Val984=) rs113872381 0.00008
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg) rs146267300 0.00007
NM_000178.4(GSS):c.1389G>A (p.Ala463=) rs765311167 0.00007
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=) rs369897941 0.00007
NM_017570.5(OPLAH):c.1584G>A (p.Val528=) rs188318488 0.00007
NM_017570.5(OPLAH):c.1843C>T (p.Arg615Trp) rs377081217 0.00007
NM_017570.5(OPLAH):c.2512-19G>A rs782224612 0.00007
NM_017570.5(OPLAH):c.2514G>A (p.Val838=) rs782620395 0.00007
NM_017570.5(OPLAH):c.870G>A (p.Pro290=) rs782821148 0.00007
NM_000178.4(GSS):c.1059G>A (p.Glu353=) rs139120783 0.00006
NM_017570.5(OPLAH):c.1140C>T (p.Pro380=) rs544489065 0.00006
NM_017570.5(OPLAH):c.3019-11G>A rs562417499 0.00006
NM_017570.5(OPLAH):c.3516C>A (p.Gly1172=) rs781879072 0.00006
NM_017570.5(OPLAH):c.2248+11G>A rs369159207 0.00005
NM_017570.5(OPLAH):c.2367C>T (p.Ile789=) rs1304694945 0.00005
NM_017570.5(OPLAH):c.3154-12C>T rs782189981 0.00005
NM_000178.4(GSS):c.275+19T>C rs764348562 0.00004
NM_017570.5(OPLAH):c.2334C>T (p.Pro778=) rs377496673 0.00004
NM_017570.5(OPLAH):c.2512-6C>T rs532077880 0.00004
NM_017570.5(OPLAH):c.463+15G>A rs369287805 0.00004
NM_017570.5(OPLAH):c.501G>T (p.Val167=) rs781869843 0.00004
NM_000178.4(GSS):c.1053C>T (p.Ile351=) rs373822828 0.00003
NM_000178.4(GSS):c.129+16C>T rs762050174 0.00003
NM_000178.4(GSS):c.1362C>T (p.Ile454=) rs911134339 0.00003
NM_000178.4(GSS):c.915G>A (p.Lys305=) rs200189613 0.00003
NM_000178.4(GSS):c.996C>T (p.Arg332=) rs374760588 0.00003
NM_017570.5(OPLAH):c.1156+15C>T rs782672773 0.00003
NM_017570.5(OPLAH):c.1377C>T (p.Arg459=) rs782378768 0.00003
NM_017570.5(OPLAH):c.1422+16C>T rs782328498 0.00003
NM_017570.5(OPLAH):c.2043G>A (p.Glu681=) rs370662931 0.00003
NM_017570.5(OPLAH):c.3558T>C (p.Phe1186=) rs782420814 0.00003
NM_017570.5(OPLAH):c.364-9C>T rs781921497 0.00003
NM_017570.5(OPLAH):c.3717C>T (p.Pro1239=) rs782627684 0.00003
NM_017570.5(OPLAH):c.3822G>A (p.Glu1274=) rs372277185 0.00003
NM_017570.5(OPLAH):c.784-20C>T rs533980978 0.00003
NM_017570.5(OPLAH):c.784-9C>T rs1046292529 0.00003
NM_000178.4(GSS):c.1056C>T (p.Ala352=) rs142345902 0.00002
NM_000178.4(GSS):c.1122A>G (p.Leu374=) rs559699424 0.00002
NM_000178.4(GSS):c.1329G>A (p.Lys443=) rs200851199 0.00002
NM_000178.4(GSS):c.1332C>T (p.His444=) rs141872946 0.00002
NM_000178.4(GSS):c.201T>C (p.Ala67=) rs771607368 0.00002
NM_000178.4(GSS):c.396C>T (p.Arg132=) rs539541913 0.00002
NM_000178.4(GSS):c.689+8A>G rs1459449314 0.00002
NM_000178.4(GSS):c.990C>T (p.Arg330=) rs775287326 0.00002
NM_017570.5(OPLAH):c.1300G>A (p.Val434Ile) rs536115347 0.00002
NM_017570.5(OPLAH):c.171+12C>T rs1220669021 0.00002
NM_017570.5(OPLAH):c.187C>T (p.Leu63=) rs782424960 0.00002
NM_017570.5(OPLAH):c.1884G>A (p.Pro628=) rs373083081 0.00002
NM_017570.5(OPLAH):c.2096+15G>A rs782377754 0.00002
NM_017570.5(OPLAH):c.2190C>T (p.Gly730=) rs782691100 0.00002
NM_017570.5(OPLAH):c.2442C>T (p.Gly814=) rs535876529 0.00002
NM_017570.5(OPLAH):c.463+14C>T rs782223796 0.00002
NM_017570.5(OPLAH):c.567G>A (p.Val189=) rs781927850 0.00002
NM_017570.5(OPLAH):c.587+10G>A rs566854306 0.00002
NM_017570.5(OPLAH):c.672C>T (p.Pro224=) rs368105559 0.00002
NM_000178.4(GSS):c.1029+10C>A rs2081404314 0.00001
NM_000178.4(GSS):c.1029+14C>T rs370240734 0.00001
NM_000178.4(GSS):c.1030-12G>T rs1264454119 0.00001
NM_000178.4(GSS):c.1047G>A (p.Gln349=) rs772123367 0.00001
NM_000178.4(GSS):c.108A>G (p.Ser36=) rs2081570033 0.00001
NM_000178.4(GSS):c.1095C>T (p.Pro365=) rs760518567 0.00001
NM_000178.4(GSS):c.1111+16T>C rs1196009267 0.00001
NM_000178.4(GSS):c.1111+8G>T rs1021215063 0.00001
NM_000178.4(GSS):c.1112-4G>A rs1484457357 0.00001
NM_000178.4(GSS):c.1167T>C (p.Ser389=) rs2081382368 0.00001
NM_000178.4(GSS):c.1182C>T (p.Ser394=) rs372082838 0.00001
NM_000178.4(GSS):c.1239T>C (p.Pro413=) rs201406090 0.00001
NM_000178.4(GSS):c.126G>A (p.Ser42=) rs200259388 0.00001
NM_000178.4(GSS):c.1302-11C>T rs763981800 0.00001
NM_000178.4(GSS):c.1317C>T (p.Leu439=) rs766546361 0.00001
NM_000178.4(GSS):c.132G>A (p.Val44=) rs370562032 0.00001
NM_000178.4(GSS):c.1353C>G (p.Thr451=) rs756821155 0.00001
NM_000178.4(GSS):c.135G>A (p.Val45=) rs1452277210 0.00001
NM_000178.4(GSS):c.1374T>C (p.Asp458=) rs777377263 0.00001
NM_000178.4(GSS):c.153G>A (p.Thr51=) rs200148175 0.00001
NM_000178.4(GSS):c.189G>A (p.Glu63=) rs1216473793 0.00001
NM_000178.4(GSS):c.198T>C (p.Tyr66=) rs1485623109 0.00001
NM_000178.4(GSS):c.204G>T (p.Val68=) rs2081519190 0.00001
NM_000178.4(GSS):c.255C>T (p.Phe85=) rs1171572146 0.00001
NM_000178.4(GSS):c.256C>T (p.Leu86=) rs976619345 0.00001
NM_000178.4(GSS):c.300C>T (p.Thr100=) rs781170028 0.00001
NM_000178.4(GSS):c.318C>T (p.Ile106=) rs1299366880 0.00001
NM_000178.4(GSS):c.354T>C (p.Thr118=) rs1031239927 0.00001
NM_000178.4(GSS):c.411C>T (p.Ser137=) rs550805482 0.00001
NM_000178.4(GSS):c.480A>T (p.Pro160=) rs2519032264 0.00001
NM_000178.4(GSS):c.492-7C>T rs370970239 0.00001
NM_000178.4(GSS):c.609-4C>G rs1263234131 0.00001
NM_000178.4(GSS):c.609-6C>G rs771317556 0.00001
NM_000178.4(GSS):c.689+14G>C rs201811094 0.00001
NM_000178.4(GSS):c.689+9A>T rs1569011846 0.00001
NM_000178.4(GSS):c.690-17T>C rs1214801237 0.00001
NM_000178.4(GSS):c.690-6T>C rs1444334936 0.00001
NM_000178.4(GSS):c.690-8T>G rs1486733283 0.00001
NM_000178.4(GSS):c.723T>C (p.Asp241=) rs955302461 0.00001
NM_000178.4(GSS):c.767+12C>T rs757946707 0.00001
NM_000178.4(GSS):c.768-16C>G rs554473553 0.00001
NM_000178.4(GSS):c.834+13T>C rs1445396251 0.00001
NM_000178.4(GSS):c.835-19T>C rs765610332 0.00001
NM_000178.4(GSS):c.835-8C>T rs759899188 0.00001
NM_000178.4(GSS):c.87G>A (p.Glu29=) rs2519043918 0.00001
NM_000178.4(GSS):c.930G>A (p.Glu310=) rs745726845 0.00001
NM_000178.4(GSS):c.942G>A (p.Pro314=) rs770380494 0.00001
NM_000178.4(GSS):c.981T>C (p.Ala327=) rs761196398 0.00001
NM_017570.5(OPLAH):c.1278C>T (p.Ala426=) rs782797712 0.00001
NM_017570.5(OPLAH):c.1423-5C>T rs782251224 0.00001
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=) rs782608385 0.00001
NM_017570.5(OPLAH):c.171+13G>A rs1266382044 0.00001
NM_017570.5(OPLAH):c.1824C>T (p.Phe608=) rs782271343 0.00001
NM_017570.5(OPLAH):c.1844+8G>C rs781938919 0.00001
NM_017570.5(OPLAH):c.2097-20C>G rs763889831 0.00001
NM_017570.5(OPLAH):c.210C>T (p.Asp70=) rs781951821 0.00001
NM_017570.5(OPLAH):c.2454G>T (p.Leu818=) rs782187472 0.00001
NM_017570.5(OPLAH):c.2733C>T (p.Ser911=) rs1025085377 0.00001
NM_017570.5(OPLAH):c.3177G>C (p.Val1059=) rs781831774 0.00001
NM_017570.5(OPLAH):c.3304-11G>A rs533851204 0.00001
NM_017570.5(OPLAH):c.3461+15C>T rs1479237568 0.00001
NM_017570.5(OPLAH):c.3721-12C>G rs781806067 0.00001
NM_017570.5(OPLAH):c.453G>A (p.Thr151=) rs782431928 0.00001
NM_017570.5(OPLAH):c.816C>T (p.Gly272=) rs533428247 0.00001
NM_017570.5(OPLAH):c.861C>T (p.Leu287=) rs781841221 0.00001
NM_017570.5(OPLAH):c.950-17C>T rs782726976 0.00001
NM_000178.4(GSS):c.1011C>T (p.Gly337=) rs2519020525
NM_000178.4(GSS):c.1029+11A>G rs2519020449
NM_000178.4(GSS):c.1029+13C>T rs763632397
NM_000178.4(GSS):c.1029+14del rs2519020443
NM_000178.4(GSS):c.1030-10C>T rs2519019696
NM_000178.4(GSS):c.1030-14C>T rs2081400842
NM_000178.4(GSS):c.1030-15T>G rs2519019706
NM_000178.4(GSS):c.1030-16T>G rs2519019707
NM_000178.4(GSS):c.1030-19G>A rs2519019715
NM_000178.4(GSS):c.1050C>T (p.Ala350=) rs1032310323
NM_000178.4(GSS):c.105C>G (p.Thr35=) rs1236802847
NM_000178.4(GSS):c.1065T>A (p.Leu355=) rs2519019603
NM_000178.4(GSS):c.1080G>A (p.Arg360=) rs2519019567
NM_000178.4(GSS):c.1111+14C>T rs748115106
NM_000178.4(GSS):c.1112-18T>A rs2519017272
NM_000178.4(GSS):c.1112-18T>C rs2519017272
NM_000178.4(GSS):c.111G>A (p.Gln37=) rs1569018935
NM_000178.4(GSS):c.1120C>T (p.Leu374=) rs1328718378
NM_000178.4(GSS):c.1134A>G (p.Glu378=) rs2519017112
NM_000178.4(GSS):c.1147C>T (p.Leu383=)
NM_000178.4(GSS):c.1156C>T (p.Leu386=) rs2519017039
NM_000178.4(GSS):c.1203C>A (p.Ile401=) rs138574949
NM_000178.4(GSS):c.1206A>G (p.Glu402=) rs1446291271
NM_000178.4(GSS):c.1234C>A (p.Arg412=) rs767231017
NM_000178.4(GSS):c.1252C>A (p.Arg418=) rs1486049191
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.1260C>T (p.Val420=) rs369657861
NM_000178.4(GSS):c.1272A>G (p.Ser424=) rs2519016620
NM_000178.4(GSS):c.1281C>T (p.Gly427=) rs2081380879
NM_000178.4(GSS):c.129+10T>G rs1356493998
NM_000178.4(GSS):c.129+17T>C rs2081569584
NM_000178.4(GSS):c.129+18C>A rs1446561503
NM_000178.4(GSS):c.129+19C>T rs2081569543
NM_000178.4(GSS):c.129+9C>G rs772305252
NM_000178.4(GSS):c.1293C>T (p.Val431=)
NM_000178.4(GSS):c.130-12T>C rs778495518
NM_000178.4(GSS):c.130-15_130-14insTA rs2519036678
NM_000178.4(GSS):c.130-18C>T rs1417487649
NM_000178.4(GSS):c.130-8G>A rs376165467
NM_000178.4(GSS):c.1301+13G>A rs111816203
NM_000178.4(GSS):c.1301+14_1301+16del
NM_000178.4(GSS):c.1301+15A>G rs2519016453
NM_000178.4(GSS):c.1302-14C>G rs751351803
NM_000178.4(GSS):c.1302-15C>T rs2519015000
NM_000178.4(GSS):c.1302-16G>A rs2081375554
NM_000178.4(GSS):c.1302-16G>C rs2081375554
NM_000178.4(GSS):c.1302-18C>T rs2519015008
NM_000178.4(GSS):c.1305G>A (p.Gln435=) rs2519014918
NM_000178.4(GSS):c.1344A>T (p.Leu448=) rs2519014687
NM_000178.4(GSS):c.1422G>T (p.Val474=) rs367953336
NM_000178.4(GSS):c.156C>T (p.Leu52=) rs761807612
NM_000178.4(GSS):c.183G>A (p.Leu61=) rs2519036486
NM_000178.4(GSS):c.207G>A (p.Gln69=) rs778604655
NM_000178.4(GSS):c.216C>T (p.Phe72=) rs2519036409
NM_000178.4(GSS):c.220C>T (p.Leu74=)
NM_000178.4(GSS):c.223C>T (p.Leu75=) rs2081518980
NM_000178.4(GSS):c.225A>G (p.Leu75=) rs2519036388
NM_000178.4(GSS):c.243G>A (p.Gln81=) rs1421848000
NM_000178.4(GSS):c.252C>A (p.Ala84=) rs1413763789
NM_000178.4(GSS):c.273C>G (p.Ser91=) rs368946745
NM_000178.4(GSS):c.275+12T>C rs751640755
NM_000178.4(GSS):c.275+20T>C rs734111
NM_000178.4(GSS):c.275+20del rs770029537
NM_000178.4(GSS):c.275+7del rs768555177
NM_000178.4(GSS):c.276-16C>T rs1569014553
NM_000178.4(GSS):c.276-7C>T rs1239115386
NM_000178.4(GSS):c.282C>T (p.Ile94=) rs2519033456
NM_000178.4(GSS):c.306T>A (p.Arg102=) rs2519033407
NM_000178.4(GSS):c.315C>T (p.Asp105=) rs1444390715
NM_000178.4(GSS):c.330C>A (p.Val110=) rs759871009
NM_000178.4(GSS):c.330C>T (p.Val110=)
NM_000178.4(GSS):c.333A>G (p.Leu111=) rs2147130019
NM_000178.4(GSS):c.351+12C>T rs919208415
NM_000178.4(GSS):c.351+20C>T rs1488574986
NM_000178.4(GSS):c.351+7A>G rs2519033270
NM_000178.4(GSS):c.352-15C>T
NM_000178.4(GSS):c.352-19C>A
NM_000178.4(GSS):c.357G>A (p.Val119=) rs920118182
NM_000178.4(GSS):c.360C>T (p.Phe120=) rs2519032604
NM_000178.4(GSS):c.361C>T (p.Leu121=) rs766593314
NM_000178.4(GSS):c.363G>C (p.Leu121=) rs975687710
NM_000178.4(GSS):c.366C>T (p.Gly122=) rs2519032570
NM_000178.4(GSS):c.429C>A (p.Ile143=) rs145606015
NM_000178.4(GSS):c.429C>T (p.Ile143=) rs145606015
NM_000178.4(GSS):c.42G>A (p.Gln14=) rs1824046754
NM_000178.4(GSS):c.438C>T (p.Asn146=) rs780392837
NM_000178.4(GSS):c.462C>T (p.Gly154=) rs1326342374
NM_000178.4(GSS):c.477C>A (p.Thr159=) rs143272537
NM_000178.4(GSS):c.477C>T (p.Thr159=) rs143272537
NM_000178.4(GSS):c.491+14G>A rs1482081536
NM_000178.4(GSS):c.491+18C>T
NM_000178.4(GSS):c.492-18C>T
NM_000178.4(GSS):c.492-5A>G rs2519031373
NM_000178.4(GSS):c.531C>G (p.Gly177=) rs2147129128
NM_000178.4(GSS):c.537C>T (p.Ile179=) rs1211758840
NM_000178.4(GSS):c.540C>T (p.Leu180=) rs2081484861
NM_000178.4(GSS):c.608+13A>T rs2519031118
NM_000178.4(GSS):c.609-16T>G rs1000890314
NM_000178.4(GSS):c.609-18C>T rs746004095
NM_000178.4(GSS):c.612T>C (p.Ala204=) rs145151153
NM_000178.4(GSS):c.615G>C (p.Leu205=) rs779352530
NM_000178.4(GSS):c.636G>A (p.Glu212=) rs2081446143
NM_000178.4(GSS):c.663T>G (p.Arg221=) rs2519026624
NM_000178.4(GSS):c.66C>G (p.Ala22=) rs138365665
NM_000178.4(GSS):c.66C>T (p.Ala22=) rs138365665
NM_000178.4(GSS):c.681A>G (p.Leu227=) rs2519026589
NM_000178.4(GSS):c.689+11del rs2519026557
NM_000178.4(GSS):c.689+17G>C rs79680633
NM_000178.4(GSS):c.689+9A>G rs1569011846
NM_000178.4(GSS):c.690-12C>T rs2519026406
NM_000178.4(GSS):c.690-14C>T rs756776895
NM_000178.4(GSS):c.702G>C (p.Val234=) rs2147125544
NM_000178.4(GSS):c.735G>A (p.Lys245=)
NM_000178.4(GSS):c.738G>T (p.Gly246=) rs2519026253
NM_000178.4(GSS):c.759G>A (p.Arg253=) rs2519026215
NM_000178.4(GSS):c.767+8T>G rs2519026185
NM_000178.4(GSS):c.768-11C>T rs2081435418
NM_000178.4(GSS):c.768-11del rs2519025021
NM_000178.4(GSS):c.768-12C>T rs2519025024
NM_000178.4(GSS):c.786T>C (p.Ala262=) rs1265314835
NM_000178.4(GSS):c.789G>A (p.Val263=) rs2519024932
NM_000178.4(GSS):c.807C>T (p.Gly269=) rs1211030481
NM_000178.4(GSS):c.834+8T>A rs2519024795
NM_000178.4(GSS):c.835-10C>T
NM_000178.4(GSS):c.879G>A (p.Lys293=) rs2147122502
NM_000178.4(GSS):c.90A>T (p.Gly30=) rs1182355087
NM_000178.4(GSS):c.951G>A (p.Leu317=)
NM_000178.4(GSS):c.969C>G (p.Gly323=) rs754283024
NM_000178.4(GSS):c.969C>T (p.Gly323=) rs754283024
NM_017570.5(OPLAH):c.1137A>G (p.Gly379=) rs1587563596
NM_017570.5(OPLAH):c.1149C>T (p.Tyr383=) rs2540269309
NM_017570.5(OPLAH):c.1386C>T (p.Asn462=)
NM_017570.5(OPLAH):c.1431C>T (p.Gly477=) rs370128920
NM_017570.5(OPLAH):c.147A>G (p.Glu49=) rs2129848675
NM_017570.5(OPLAH):c.1533C>T (p.His511=)
NM_017570.5(OPLAH):c.1535+16G>A rs1835541203
NM_017570.5(OPLAH):c.1539C>T (p.His513=)
NM_017570.5(OPLAH):c.1546C>T (p.Leu516=)
NM_017570.5(OPLAH):c.172-13A>G
NM_017570.5(OPLAH):c.172-5C>T rs371768380
NM_017570.5(OPLAH):c.17G>A (p.Gly6Asp)
NM_017570.5(OPLAH):c.1890C>T (p.Val630=)
NM_017570.5(OPLAH):c.1896C>T (p.Asp632=)
NM_017570.5(OPLAH):c.1924A>T (p.Ser642Cys) rs141154641
NM_017570.5(OPLAH):c.192C>G (p.Pro64=)
NM_017570.5(OPLAH):c.1962C>T (p.Thr654=) rs782092076
NM_017570.5(OPLAH):c.1971C>T (p.Pro657=) rs1373642781
NM_017570.5(OPLAH):c.1984-13G>A
NM_017570.5(OPLAH):c.2007G>C (p.Gly669=) rs782184222
NM_017570.5(OPLAH):c.204G>A (p.Pro68=) rs141015149
NM_017570.5(OPLAH):c.2232C>G (p.Arg744=) rs1554758830
NM_017570.5(OPLAH):c.2248+19G>T
NM_017570.5(OPLAH):c.2340G>A (p.Gly780=)
NM_017570.5(OPLAH):c.2511+17G>A
NM_017570.5(OPLAH):c.2512-5G>A rs368798472
NM_017570.5(OPLAH):c.2608C>G (p.His870Asp) rs539582965
NM_017570.5(OPLAH):c.2686+10_2686+15del
NM_017570.5(OPLAH):c.2841C>T (p.Asp947=) rs146913583
NM_017570.5(OPLAH):c.2871+13A>C rs1554758169
NM_017570.5(OPLAH):c.2872-4C>T rs1445171922
NM_017570.5(OPLAH):c.294G>A (p.Leu98=)
NM_017570.5(OPLAH):c.2989C>T (p.Arg997Cys) rs200620019
NM_017570.5(OPLAH):c.3019-5C>T
NM_017570.5(OPLAH):c.3186C>T (p.Pro1062=)
NM_017570.5(OPLAH):c.3249G>T (p.Ser1083=)
NM_017570.5(OPLAH):c.3303+11G>T
NM_017570.5(OPLAH):c.3304-10C>T rs1835401825
NM_017570.5(OPLAH):c.3324C>G (p.Thr1108=)
NM_017570.5(OPLAH):c.3327G>A (p.Leu1109=) rs1482664128
NM_017570.5(OPLAH):c.3372G>A (p.Ala1124=) rs1410539916
NM_017570.5(OPLAH):c.3438C>T (p.Thr1146=)
NM_017570.5(OPLAH):c.3461+17G>A rs782302289
NM_017570.5(OPLAH):c.3609A>G (p.Pro1203=)
NM_017570.5(OPLAH):c.3622+17C>T
NM_017570.5(OPLAH):c.3622+7G>C
NM_017570.5(OPLAH):c.3623-13C>G rs2540236008
NM_017570.5(OPLAH):c.3721-12_3721-11insCT
NM_017570.5(OPLAH):c.3721-13C>T rs782765595
NM_017570.5(OPLAH):c.3721-15C>A rs781871568
NM_017570.5(OPLAH):c.3721-15_3721-6del
NM_017570.5(OPLAH):c.3721-20_3721-18del rs782715961
NM_017570.5(OPLAH):c.3721-20_3721-19del rs781891990
NM_017570.5(OPLAH):c.3753T>C (p.Gly1251=) rs1587548662
NM_017570.5(OPLAH):c.378T>G (p.Pro126=) rs1587567078
NM_017570.5(OPLAH):c.3831C>T (p.Ser1277=) rs1382077116
NM_017570.5(OPLAH):c.447C>T (p.Thr149=) rs1187467093
NM_017570.5(OPLAH):c.471G>T (p.Thr157=)
NM_017570.5(OPLAH):c.540A>G (p.Leu180=) rs1554760168
NM_017570.5(OPLAH):c.587+12G>T
NM_017570.5(OPLAH):c.654G>A (p.Leu218=) rs2540275589
NM_017570.5(OPLAH):c.729C>T (p.Pro243=)
NM_017570.5(OPLAH):c.744C>T (p.Tyr248=) rs782350791
NM_017570.5(OPLAH):c.783+14G>C rs1030570106
NM_017570.5(OPLAH):c.810C>T (p.Ser270=) rs781885560
NM_017570.5(OPLAH):c.843C>T (p.Ser281=) rs549502677
NM_017570.5(OPLAH):c.864G>A (p.Ser288=) rs1554759938
NM_017570.5(OPLAH):c.876C>T (p.Gly292=) rs373739497
NM_017570.5(OPLAH):c.960G>T (p.Thr320=) rs375010602
NM_017570.5(OPLAH):c.988G>A (p.Glu330Lys) rs573489994

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