ClinVar Miner

List of variants in gene combination ARG1, MED23 studied for Arginase deficiency

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Gene type:
ClinVar version:
Total variants: 483
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04183
NM_000045.4(ARG1):c.953T>C (p.Leu318Pro) rs73544627 0.00110
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) rs144994895 0.00085
NM_000045.4(ARG1):c.594T>C (p.Phe198=) rs149496218 0.00042
NM_000045.4(ARG1):c.*310A>G rs142812031 0.00041
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn) rs111253965 0.00041
NM_000045.4(ARG1):c.803-8T>C rs374805901 0.00038
NM_000045.4(ARG1):c.474T>C (p.Asp158=) rs144403253 0.00021
NM_000045.4(ARG1):c.856C>A (p.Pro286Thr) rs370022660 0.00020
NM_000045.4(ARG1):c.472G>A (p.Asp158Asn) rs751647696 0.00017
NM_000045.4(ARG1):c.237G>C (p.Gln79His) rs148619575 0.00016
NM_000045.4(ARG1):c.271G>A (p.Gly91Arg) rs374676787 0.00014
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378 0.00014
NM_000045.4(ARG1):c.831A>G (p.Glu277=) rs748654016 0.00008
NM_000045.4(ARG1):c.665+4G>A rs371976737 0.00007
NM_000045.4(ARG1):c.746T>C (p.Val249Ala) rs755779260 0.00007
NM_000045.4(ARG1):c.333T>C (p.His111=) rs200458963 0.00006
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) rs202219126 0.00006
NM_000045.4(ARG1):c.135T>C (p.Cys45=) rs372415368 0.00005
NM_000045.4(ARG1):c.234G>A (p.Glu78=) rs571619062 0.00005
NM_000045.4(ARG1):c.309G>A (p.Leu103=) rs749043086 0.00005
NM_000045.4(ARG1):c.482G>C (p.Gly161Ala) rs201484132 0.00005
NM_000045.4(ARG1):c.553G>C (p.Gly185Arg) rs768303250 0.00005
NM_000045.4(ARG1):c.306-16A>T rs772341418 0.00004
NM_000045.4(ARG1):c.471C>T (p.Pro157=) rs766853875 0.00004
NM_000045.4(ARG1):c.564C>T (p.Tyr188=) rs376378819 0.00004
NM_000045.4(ARG1):c.822T>C (p.Asp274=) rs1353394805 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000045.4(ARG1):c.907T>G (p.Cys303Gly) rs148113697 0.00004
NM_000045.4(ARG1):c.241G>T (p.Ala81Ser) rs142107090 0.00003
NM_000045.4(ARG1):c.245G>A (p.Gly82Asp) rs774273532 0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000045.4(ARG1):c.505A>G (p.Ile169Val) rs949681378 0.00003
NM_000045.4(ARG1):c.558A>G (p.Glu186=) rs773465984 0.00003
NM_000045.4(ARG1):c.561-6T>C rs1230510854 0.00003
NM_000045.4(ARG1):c.621A>C (p.Gly207=) rs1028447199 0.00003
NM_000045.4(ARG1):c.640G>A (p.Glu214Lys) rs200496725 0.00003
NM_000045.4(ARG1):c.702C>T (p.Asp234=) rs148939143 0.00003
NM_000045.4(ARG1):c.802+4G>C rs763249487 0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000045.4(ARG1):c.232G>A (p.Glu78Lys) rs547122192 0.00002
NM_000045.4(ARG1):c.289C>G (p.Leu97Val) rs760319794 0.00002
NM_000045.4(ARG1):c.306-5A>G rs777553747 0.00002
NM_000045.4(ARG1):c.306-7C>T rs537503803 0.00002
NM_000045.4(ARG1):c.314T>C (p.Ile105Thr) rs762306280 0.00002
NM_000045.4(ARG1):c.349G>A (p.Asp117Asn) rs754655577 0.00002
NM_000045.4(ARG1):c.525G>A (p.Val175=) rs779060814 0.00002
NM_000045.4(ARG1):c.541G>T (p.Asp181Tyr) rs1472741630 0.00002
NM_000045.4(ARG1):c.58-16T>C rs780487191 0.00002
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu) rs775435820 0.00002
NM_000045.4(ARG1):c.630G>A (p.Lys210=) rs760873925 0.00002
NM_000045.4(ARG1):c.685C>T (p.Leu229=) rs538034569 0.00002
NM_000045.4(ARG1):c.726A>T (p.Pro242=) rs750244366 0.00002
NM_000045.4(ARG1):c.884C>A (p.Thr295Lys) rs1332603898 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000045.4(ARG1):c.924G>T (p.Arg308=) rs370831108 0.00002
NM_000045.4(ARG1):c.959C>T (p.Pro320Leu) rs1278453710 0.00002
NM_000045.4(ARG1):c.131-4T>A rs1384438350 0.00001
NM_000045.4(ARG1):c.144G>A (p.Lys48=) rs375655714 0.00001
NM_000045.4(ARG1):c.147T>C (p.Asp49=) rs1773783430 0.00001
NM_000045.4(ARG1):c.150T>C (p.Tyr50=) rs1415873396 0.00001
NM_000045.4(ARG1):c.153G>T (p.Gly51=) rs1320772127 0.00001
NM_000045.4(ARG1):c.157C>T (p.Leu53=) rs188888028 0.00001
NM_000045.4(ARG1):c.159G>A (p.Leu53=) rs535161157 0.00001
NM_000045.4(ARG1):c.187C>G (p.Pro63Ala) rs756825623 0.00001
NM_000045.4(ARG1):c.210A>G (p.Pro70=) rs745580041 0.00001
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr) rs757959356 0.00001
NM_000045.4(ARG1):c.230G>A (p.Ser77Asn) rs1296916689 0.00001
NM_000045.4(ARG1):c.231C>T (p.Ser77=) rs369393679 0.00001
NM_000045.4(ARG1):c.242C>T (p.Ala81Val) rs1256715205 0.00001
NM_000045.4(ARG1):c.251T>C (p.Val84Ala) rs1311659158 0.00001
NM_000045.4(ARG1):c.266A>C (p.Lys89Thr) rs759832639 0.00001
NM_000045.4(ARG1):c.275G>T (p.Arg92Ile) rs1211764471 0.00001
NM_000045.4(ARG1):c.282C>T (p.Ser94=) rs1239300546 0.00001
NM_000045.4(ARG1):c.292G>A (p.Gly98Ser) rs1251633225 0.00001
NM_000045.4(ARG1):c.294C>T (p.Gly98=) rs763868954 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.305+16T>C rs1190917489 0.00001
NM_000045.4(ARG1):c.305+7T>C rs886061060 0.00001
NM_000045.4(ARG1):c.305+8T>C rs764770439 0.00001
NM_000045.4(ARG1):c.306-15T>C rs985914059 0.00001
NM_000045.4(ARG1):c.306-9C>T rs1773903919 0.00001
NM_000045.4(ARG1):c.308T>C (p.Leu103Ser) rs761773853 0.00001
NM_000045.4(ARG1):c.312A>T (p.Ala104=) rs995938048 0.00001
NM_000045.4(ARG1):c.322A>G (p.Ile108Val) rs1773905930 0.00001
NM_000045.4(ARG1):c.342C>T (p.Val114=) rs751231138 0.00001
NM_000045.4(ARG1):c.362T>C (p.Ile121Thr) rs746381302 0.00001
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter) rs104893947 0.00001
NM_000045.4(ARG1):c.368T>G (p.Val123Gly) rs913575060 0.00001
NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr) rs1773910245 0.00001
NM_000045.4(ARG1):c.371A>G (p.Asp124Gly) rs1773910389 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000045.4(ARG1):c.402A>C (p.Thr134=) rs1288330812 0.00001
NM_000045.4(ARG1):c.411T>C (p.Ser137=) rs759282838 0.00001
NM_000045.4(ARG1):c.413G>T (p.Gly138Val) rs104893943 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000045.4(ARG1):c.465+1G>A rs758905397 0.00001
NM_000045.4(ARG1):c.466-12T>C rs371980294 0.00001
NM_000045.4(ARG1):c.466-13A>T rs1448074178 0.00001
NM_000045.4(ARG1):c.466-14C>T rs1773983345 0.00001
NM_000045.4(ARG1):c.466-1G>C rs1064794165 0.00001
NM_000045.4(ARG1):c.486C>T (p.Phe162=) rs752966614 0.00001
NM_000045.4(ARG1):c.501C>A (p.Pro167=) rs1773988131 0.00001
NM_000045.4(ARG1):c.522T>C (p.Ile174=) rs370289649 0.00001
NM_000045.4(ARG1):c.531T>C (p.Ile177=) rs2114545822 0.00001
NM_000045.4(ARG1):c.543C>T (p.Asp181=) rs745787043 0.00001
NM_000045.4(ARG1):c.560+10T>C rs527679047 0.00001
NM_000045.4(ARG1):c.560+18T>A rs760015789 0.00001
NM_000045.4(ARG1):c.560+5G>A rs763312659 0.00001
NM_000045.4(ARG1):c.561-19C>A rs746467226 0.00001
NM_000045.4(ARG1):c.561-5T>C rs768201589 0.00001
NM_000045.4(ARG1):c.582C>T (p.Gly194=) rs1429174075 0.00001
NM_000045.4(ARG1):c.589T>C (p.Tyr197His) rs771334658 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000045.4(ARG1):c.640del (p.Glu214fs) rs2482384211 0.00001
NM_000045.4(ARG1):c.665+14G>C rs758420954 0.00001
NM_000045.4(ARG1):c.665+20G>A rs1313714287 0.00001
NM_000045.4(ARG1):c.665+2T>C rs113645893 0.00001
NM_000045.4(ARG1):c.665+6A>G rs1413302131 0.00001
NM_000045.4(ARG1):c.666-5A>G rs1417120069 0.00001
NM_000045.4(ARG1):c.67G>T (p.Gly23Trp) rs1773627584 0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948 0.00001
NM_000045.4(ARG1):c.720C>T (p.Phe240=) rs762145115 0.00001
NM_000045.4(ARG1):c.724C>T (p.Pro242Ser) rs765495464 0.00001
NM_000045.4(ARG1):c.739C>T (p.Pro247Ser) rs981570531 0.00001
NM_000045.4(ARG1):c.744C>T (p.Val248=) rs556756212 0.00001
NM_000045.4(ARG1):c.769G>A (p.Gly257Ser) rs372489226 0.00001
NM_000045.4(ARG1):c.76G>A (p.Glu26Lys) rs998513101 0.00001
NM_000045.4(ARG1):c.774C>T (p.Leu258=) rs770834693 0.00001
NM_000045.4(ARG1):c.787G>A (p.Glu263Lys) rs747579073 0.00001
NM_000045.4(ARG1):c.789A>G (p.Glu263=) rs541871489 0.00001
NM_000045.4(ARG1):c.804G>A (p.Gly268=) rs747275658 0.00001
NM_000045.4(ARG1):c.817T>C (p.Leu273=) rs2482390796 0.00001
NM_000045.4(ARG1):c.81C>T (p.Gly27=) rs2114519204 0.00001
NM_000045.4(ARG1):c.825A>G (p.Ile275Met) rs781780752 0.00001
NM_000045.4(ARG1):c.827T>C (p.Met276Thr) rs1395352972 0.00001
NM_000045.4(ARG1):c.843C>T (p.Ser281=) rs771010341 0.00001
NM_000045.4(ARG1):c.858A>G (p.Pro286=) rs2114551265 0.00001
NM_000045.4(ARG1):c.879G>C (p.Val293=) rs532943866 0.00001
NM_000045.4(ARG1):c.882C>A (p.Asn294Lys) rs756944730 0.00001
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg) rs866970619 0.00001
NM_000045.4(ARG1):c.915A>G (p.Gly305=) rs771190594 0.00001
NM_000045.4(ARG1):c.922C>T (p.Arg308Trp) rs897222563 0.00001
NM_000045.4(ARG1):c.926A>G (p.Glu309Gly) rs775225648 0.00001
NM_000045.4(ARG1):c.928G>T (p.Gly310Cys) rs760628925 0.00001
NM_000045.4(ARG1):c.93del (p.Arg32fs) rs755975244 0.00001
NM_000045.4(ARG1):c.943A>G (p.Ile315Val) rs2114551786 0.00001
NM_000045.4(ARG1):c.956A>G (p.Asn319Ser) rs147409787 0.00001
NC_000006.11:g.(?_131894423)_(131903875_?)dup
NC_000006.11:g.(?_131894423)_(131905048_?)del
NC_000006.11:g.(?_131900217)_(131902528_?)del
NC_000006.11:g.(?_131902339)_(131905048_?)dup
NC_000006.12:g.(?_131576653)_(131583918_?)del
NC_000006.12:g.131583354GAAA[1]
NM_000045.4(ARG1):c.*73A>G rs886061062
NM_000045.4(ARG1):c.100G>T (p.Ala34Ser) rs2114519325
NM_000045.4(ARG1):c.103G>A (p.Gly35Ser) rs2482334506
NM_000045.4(ARG1):c.104G>A (p.Gly35Asp) rs2482334522
NM_000045.4(ARG1):c.111T>C (p.Leu37=) rs2482334609
NM_000045.4(ARG1):c.115A>T (p.Lys39Ter)
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter) rs748744950
NM_000045.4(ARG1):c.124_125insT (p.Glu42fs) rs2482334738
NM_000045.4(ARG1):c.124_126del (p.Glu42del) rs779949397
NM_000045.4(ARG1):c.128A>G (p.Gln43Arg) rs2482334776
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.130+10_130+13dup rs2114519466
NM_000045.4(ARG1):c.130+11A>G rs2114519480
NM_000045.4(ARG1):c.130+1G>A rs113767658
NM_000045.4(ARG1):c.130+1G>T rs113767658
NM_000045.4(ARG1):c.130+20A>T
NM_000045.4(ARG1):c.130+20del rs1773632793
NM_000045.4(ARG1):c.130+3_130+4dup
NM_000045.4(ARG1):c.130+8_130+9del rs2482334962
NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT rs2482334706
NM_000045.4(ARG1):c.130G>C (p.Glu44Gln) rs1562354102
NM_000045.4(ARG1):c.131-10_131-9del rs1160133142
NM_000045.4(ARG1):c.131-14C>T rs2482350934
NM_000045.4(ARG1):c.131-19C>G rs763070677
NM_000045.4(ARG1):c.131-1G>C rs1773782306
NM_000045.4(ARG1):c.131-1G>T rs1773782306
NM_000045.4(ARG1):c.131-7_131-2del rs768972828
NM_000045.4(ARG1):c.131-8_131-2del rs2482351042
NM_000045.4(ARG1):c.131-9T>A rs1201469386
NM_000045.4(ARG1):c.131-9T>C rs1201469386
NM_000045.4(ARG1):c.131-9dup rs1160133142
NM_000045.4(ARG1):c.136G>A (p.Asp46Asn) rs1773782658
NM_000045.4(ARG1):c.140_141del (p.Val47fs) rs2482351208
NM_000045.4(ARG1):c.141G>A (p.Val47=) rs2482351228
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter) rs1773783170
NM_000045.4(ARG1):c.143_146del (p.Lys48fs) rs2482351242
NM_000045.4(ARG1):c.145_146insC (p.Asp49fs) rs2482351284
NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer) rs2482351345
NM_000045.4(ARG1):c.157del (p.Leu53fs) rs2482351416
NM_000045.4(ARG1):c.159G>T (p.Leu53=) rs535161157
NM_000045.4(ARG1):c.159_163del (p.Pro54fs) rs2482351431
NM_000045.4(ARG1):c.162C>T (p.Pro54=) rs2482351505
NM_000045.4(ARG1):c.168T>A (p.Ala56=) rs2482351537
NM_000045.4(ARG1):c.171C>T (p.Asp57=) rs1486118722
NM_000045.4(ARG1):c.177T>A (p.Pro59=) rs753347547
NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs) rs2482351701
NM_000045.4(ARG1):c.183C>T (p.Asp61=) rs2114530488
NM_000045.4(ARG1):c.189C>G (p.Pro63=) rs2114530548
NM_000045.4(ARG1):c.189del (p.Gln65fs) rs1562356664
NM_000045.4(ARG1):c.198T>C (p.Ile66=) rs2114530584
NM_000045.4(ARG1):c.207T>G (p.Asn69Lys) rs1554250510
NM_000045.4(ARG1):c.218T>G (p.Val73Gly) rs867223787
NM_000045.4(ARG1):c.232dup (p.Glu78fs) rs2482352133
NM_000045.4(ARG1):c.241G>A (p.Ala81Thr) rs142107090
NM_000045.4(ARG1):c.243T>C (p.Ala81=) rs1773789074
NM_000045.4(ARG1):c.252G>A (p.Val84=) rs2482352311
NM_000045.4(ARG1):c.255A>G (p.Ala85=) rs2114530857
NM_000045.4(ARG1):c.261C>A (p.Val87=) rs2482352388
NM_000045.4(ARG1):c.263_266del (p.Lys88fs) rs1773790103
NM_000045.4(ARG1):c.264G>A (p.Lys88=) rs2482352437
NM_000045.4(ARG1):c.272del (p.Gly91fs) rs796051923
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.283C>T (p.Leu95=) rs2114531019
NM_000045.4(ARG1):c.291G>A (p.Leu97=) rs2114531053
NM_000045.4(ARG1):c.295_301del (p.Gly99fs) rs2482352800
NM_000045.4(ARG1):c.297A>C (p.Gly99=) rs2114531110
NM_000045.4(ARG1):c.305+11A>G rs2482353036
NM_000045.4(ARG1):c.305+1G>A rs112432420
NM_000045.4(ARG1):c.306-10_306-9delinsCT rs2114539119
NM_000045.4(ARG1):c.306-10dup rs766750593
NM_000045.4(ARG1):c.306-11T>C rs2482367862
NM_000045.4(ARG1):c.306-12T>C rs1773903596
NM_000045.4(ARG1):c.306-16del rs543245025
NM_000045.4(ARG1):c.306-1G>A
NM_000045.4(ARG1):c.306-1G>T rs2482368025
NM_000045.4(ARG1):c.306-1_307dup rs2482368042
NM_000045.4(ARG1):c.306-1del rs2482368035
NM_000045.4(ARG1):c.314_317delinsATGC (p.Ile105_Gly106delinsAsnAla) rs2114539256
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr) rs2482368300
NM_000045.4(ARG1):c.316G>A (p.Gly106Arg) rs2482368322
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) rs1441486160
NM_000045.4(ARG1):c.318A>G (p.Gly106=) rs2482368363
NM_000045.4(ARG1):c.321C>T (p.Ser107=) rs1290471714
NM_000045.4(ARG1):c.326_353del (p.Ser109fs) rs2482368498
NM_000045.4(ARG1):c.330C>A (p.Gly110=) rs1296548302
NM_000045.4(ARG1):c.330C>T (p.Gly110=) rs1296548302
NM_000045.4(ARG1):c.330_347del (p.His111_Pro116del)
NM_000045.4(ARG1):c.336C>G (p.Ala112=) rs1585419820
NM_000045.4(ARG1):c.336C>T (p.Ala112=) rs1585419820
NM_000045.4(ARG1):c.336dup (p.Arg113fs) rs1773906992
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs) rs2482368714
NM_000045.4(ARG1):c.357A>C (p.Gly119=) rs1585419946
NM_000045.4(ARG1):c.363C>T (p.Ile121=) rs1585419999
NM_000045.4(ARG1):c.364T>G (p.Trp122Gly) rs2482368991
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter) rs2114539596
NM_000045.4(ARG1):c.374C>T (p.Ala125Val) rs2482369125
NM_000045.4(ARG1):c.375T>G (p.Ala125=) rs2482369135
NM_000045.4(ARG1):c.378C>T (p.His126=) rs2114539679
NM_000045.4(ARG1):c.381T>C (p.Thr127=) rs2114539712
NM_000045.4(ARG1):c.384T>C (p.Asp128=) rs1216971255
NM_000045.4(ARG1):c.386T>C (p.Ile129Thr) rs771165013
NM_000045.4(ARG1):c.386_388del (p.Ile129del)
NM_000045.4(ARG1):c.390C>T (p.Asn130=) rs774535167
NM_000045.4(ARG1):c.397C>T (p.Leu133=) rs769778089
NM_000045.4(ARG1):c.399G>A (p.Leu133=) rs2482369442
NM_000045.4(ARG1):c.401C>T (p.Thr134Ile) rs2482369454
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) rs1451472748
NM_000045.4(ARG1):c.420G>A (p.Leu140=) rs1472997422
NM_000045.4(ARG1):c.422A>T (p.His141Leu) rs1554250849
NM_000045.4(ARG1):c.423T>C (p.His141=) rs2114539979
NM_000045.4(ARG1):c.425del (p.Gly142fs) rs1585420294
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) rs754259099
NM_000045.4(ARG1):c.429A>G (p.Gln143=) rs757762475
NM_000045.4(ARG1):c.432_448del (p.Val145fs) rs2482369894
NM_000045.4(ARG1):c.434T>A (p.Val145Glu) rs1773915383
NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer) rs1554250852
NM_000045.4(ARG1):c.435_438dup (p.Phe147fs) rs2482369953
NM_000045.4(ARG1):c.440T>C (p.Phe147Ser) rs2482370000
NM_000045.4(ARG1):c.447G>C (p.Leu149=) rs750937576
NM_000045.4(ARG1):c.454C>T (p.Leu152=) rs1562359129
NM_000045.4(ARG1):c.457_465+18del rs2482370138
NM_000045.4(ARG1):c.459del (p.Gly154fs) rs2482370169
NM_000045.4(ARG1):c.459dup (p.Gly154fs) rs2482370169
NM_000045.4(ARG1):c.462A>G (p.Gly154=) rs2482370230
NM_000045.4(ARG1):c.464dup (p.Ile156fs) rs1773916575
NM_000045.4(ARG1):c.465+9C>T rs2482370345
NM_000045.4(ARG1):c.466-10G>A rs1244186113
NM_000045.4(ARG1):c.466-13A>G rs1448074178
NM_000045.4(ARG1):c.466-179_524del rs2114544574
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000045.4(ARG1):c.473A>G (p.Asp158Gly) rs2114545404
NM_000045.4(ARG1):c.475G>C (p.Val159Leu) rs1270108834
NM_000045.4(ARG1):c.477G>A (p.Val159=) rs2114545447
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter) rs1773986769
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter) rs146625637
NM_000045.4(ARG1):c.493dup (p.Val165fs) rs1239789338
NM_000045.4(ARG1):c.513C>T (p.Ala171=) rs1171036648
NM_000045.4(ARG1):c.513dup (p.Lys172fs) rs2482379499
NM_000045.4(ARG1):c.516G>A (p.Lys172=) rs1773989636
NM_000045.4(ARG1):c.519T>C (p.Asp173=) rs1773989815
NM_000045.4(ARG1):c.533G>A (p.Gly178Asp) rs1251635812
NM_000045.4(ARG1):c.534C>T (p.Gly178=) rs2114545840
NM_000045.4(ARG1):c.541_542del (p.Asp181fs) rs2482379821
NM_000045.4(ARG1):c.547_549del (p.Asp183del) rs2114545947
NM_000045.4(ARG1):c.549C>T (p.Asp183=) rs1773993991
NM_000045.4(ARG1):c.551C>A (p.Pro184His) rs1773994839
NM_000045.4(ARG1):c.560+15T>C rs2482380308
NM_000045.4(ARG1):c.560+19G>A rs374999926
NM_000045.4(ARG1):c.560+2T>C rs2114546081
NM_000045.4(ARG1):c.560A>G (p.His187Arg) rs2114546062
NM_000045.4(ARG1):c.561-12TC[4] rs756783454
NM_000045.4(ARG1):c.561-14T>C rs1268205686
NM_000045.4(ARG1):c.561-20T>C rs2482383119
NM_000045.4(ARG1):c.561-7T>A rs2114547549
NM_000045.4(ARG1):c.561-8T>C rs2114547535
NM_000045.4(ARG1):c.561-9C>A rs1261380741
NM_000045.4(ARG1):c.561-9C>G rs1261380741
NM_000045.4(ARG1):c.561-9_561-8del rs756783454
NM_000045.4(ARG1):c.562T>G (p.Tyr188Asp) rs934942148
NM_000045.4(ARG1):c.566T>A (p.Ile189Asn) rs886061061
NM_000045.4(ARG1):c.568T>C (p.Leu190=) rs2482383516
NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro) rs1554251136
NM_000045.4(ARG1):c.577_578del (p.Leu193fs) rs766868484
NM_000045.4(ARG1):c.58-13_58-11del rs2114518963
NM_000045.4(ARG1):c.58-17A>G rs762210089
NM_000045.4(ARG1):c.58-17A>T rs762210089
NM_000045.4(ARG1):c.58-18T>A rs1562353946
NM_000045.4(ARG1):c.58-18T>C rs1562353946
NM_000045.4(ARG1):c.58-2A>C rs1554250040
NM_000045.4(ARG1):c.58-2A>T rs1554250040
NM_000045.4(ARG1):c.58-8T>C rs2482333680
NM_000045.4(ARG1):c.591C>T (p.Tyr197=) rs2114547822
NM_000045.4(ARG1):c.594_595dup (p.Ser199fs) rs1337890012
NM_000045.4(ARG1):c.595T>G (p.Ser199Ala) rs1313116151
NM_000045.4(ARG1):c.599_601del (p.Met200del) rs1562360814
NM_000045.4(ARG1):c.59C>T (p.Pro20Leu) rs766662245
NM_000045.4(ARG1):c.603T>G (p.Thr201=) rs767964970
NM_000045.4(ARG1):c.603_604del (p.Glu202fs) rs2114547911
NM_000045.4(ARG1):c.603del (p.Glu202fs) rs2482383894
NM_000045.4(ARG1):c.606A>G (p.Glu202=) rs1013928443
NM_000045.4(ARG1):c.61C>G (p.Arg21Gly) rs104893944
NM_000045.4(ARG1):c.623T>C (p.Ile208Thr) rs993784608
NM_000045.4(ARG1):c.627C>A (p.Gly209=) rs2114548020
NM_000045.4(ARG1):c.633del (p.Met212fs) rs1774022406
NM_000045.4(ARG1):c.637G>T (p.Glu213Ter) rs2482384178
NM_000045.4(ARG1):c.63A>G (p.Arg21=) rs2114519068
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) rs1554251158
NM_000045.4(ARG1):c.645A>T (p.Thr215=) rs2114548129
NM_000045.4(ARG1):c.646C>G (p.Leu216Val) rs757518422
NM_000045.4(ARG1):c.646C>T (p.Leu216Phe) rs757518422
NM_000045.4(ARG1):c.646_649del (p.Leu216fs) rs756080885
NM_000045.4(ARG1):c.648C>T (p.Leu216=) rs2482384464
NM_000045.4(ARG1):c.657A>G (p.Leu219=) rs1159865595
NM_000045.4(ARG1):c.661G>T (p.Gly221Ter) rs2482384542
NM_000045.4(ARG1):c.663A>G (p.Gly221=) rs1452547824
NM_000045.4(ARG1):c.664A>G (p.Arg222Gly) rs1303114569
NM_000045.4(ARG1):c.665+11_665+27del rs2482384702
NM_000045.4(ARG1):c.665+13TG[3] rs780037543
NM_000045.4(ARG1):c.665+16G>A
NM_000045.4(ARG1):c.665+18G>A rs2482384833
NM_000045.4(ARG1):c.665+19T>C rs2482384850
NM_000045.4(ARG1):c.665+23_665+36del rs749072942
NM_000045.4(ARG1):c.665+7T>C rs2482384683
NM_000045.4(ARG1):c.665+7T>G rs2482384683
NM_000045.4(ARG1):c.665+9C>A rs1774025291
NM_000045.4(ARG1):c.665+9C>G
NM_000045.4(ARG1):c.666-11C>A
NM_000045.4(ARG1):c.666-13C>T rs2482386260
NM_000045.4(ARG1):c.666-18_666-14del rs772208283
NM_000045.4(ARG1):c.666-19C>T rs774722903
NM_000045.4(ARG1):c.666-20C>T
NM_000045.4(ARG1):c.666-2A>C rs1774035827
NM_000045.4(ARG1):c.666-2A>T rs1774035827
NM_000045.4(ARG1):c.666-2_668del
NM_000045.4(ARG1):c.666-6T>C rs2114549070
NM_000045.4(ARG1):c.668A>C (p.Lys223Thr) rs1360594253
NM_000045.4(ARG1):c.673A>C (p.Arg225=) rs894974293
NM_000045.4(ARG1):c.673A>G (p.Arg225Gly) rs894974293
NM_000045.4(ARG1):c.673del (p.Arg225fs) rs1464239857
NM_000045.4(ARG1):c.679dup (p.Ile227fs) rs1774036379
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer) rs2114549176
NM_000045.4(ARG1):c.687A>C (p.Leu229=) rs780770809
NM_000045.4(ARG1):c.687A>G (p.Leu229=) rs780770809
NM_000045.4(ARG1):c.693del (p.Phe231fs) rs1554251191
NM_000045.4(ARG1):c.69G>A (p.Gly23=) rs1400630976
NM_000045.4(ARG1):c.700G>A (p.Asp234Asn) rs1478297270
NM_000045.4(ARG1):c.700G>C (p.Asp234His) rs1478297270
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg) rs104893948
NM_000045.4(ARG1):c.707dup (p.Asp237fs) rs2482386783
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn) rs764273304
NM_000045.4(ARG1):c.709G>C (p.Asp237His) rs764273304
NM_000045.4(ARG1):c.709G>T (p.Asp237Tyr) rs764273304
NM_000045.4(ARG1):c.70G>C (p.Val24Leu) rs2114519104
NM_000045.4(ARG1):c.70dup (p.Val24fs) rs2482333956
NM_000045.4(ARG1):c.735C>T (p.Gly245=)
NM_000045.4(ARG1):c.742G>C (p.Val248Leu) rs751567681
NM_000045.4(ARG1):c.745G>A (p.Val249Met) rs182650447
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) rs182650447
NM_000045.4(ARG1):c.751G>A (p.Gly251Ser) rs2114549524
NM_000045.4(ARG1):c.758C>T (p.Thr253Ile) rs748924712
NM_000045.4(ARG1):c.75A>C (p.Glu25Asp) rs755973004
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.760T>C (p.Tyr254His) rs2482387390
NM_000045.4(ARG1):c.762C>T (p.Tyr254=) rs777639743
NM_000045.4(ARG1):c.766G>T (p.Glu256Ter) rs2114549604
NM_000045.4(ARG1):c.767_769del (p.Glu256del) rs1554251236
NM_000045.4(ARG1):c.769G>C (p.Gly257Arg) rs372489226
NM_000045.4(ARG1):c.770G>T (p.Gly257Val) rs772473981
NM_000045.4(ARG1):c.777C>T (p.Tyr259=) rs775687110
NM_000045.4(ARG1):c.780C>T (p.Ile260=) rs2114549662
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) rs747579073
NM_000045.4(ARG1):c.789A>T (p.Glu263Asp) rs541871489
NM_000045.4(ARG1):c.78del (p.Gly27fs) rs2114519176
NM_000045.4(ARG1):c.792C>T (p.Ile264=) rs1279130152
NM_000045.4(ARG1):c.795C>T (p.Tyr265=) rs2482387684
NM_000045.4(ARG1):c.802+12T>G rs2482387889
NM_000045.4(ARG1):c.802+15_802+19del rs2482387930
NM_000045.4(ARG1):c.802+1G>A rs1774044564
NM_000045.4(ARG1):c.802+20A>G
NM_000045.4(ARG1):c.802+2T>C rs1774044680
NM_000045.4(ARG1):c.802+76dup rs60712846
NM_000045.4(ARG1):c.802+9C>A rs1317661902
NM_000045.4(ARG1):c.802+9C>G rs1317661902
NM_000045.4(ARG1):c.803-10G>A rs2114550847
NM_000045.4(ARG1):c.803-12TTG[2] rs1774058133
NM_000045.4(ARG1):c.803-14A>G rs1774057954
NM_000045.4(ARG1):c.803-17A>G rs2482390367
NM_000045.4(ARG1):c.803-20A>G rs2482390352
NM_000045.4(ARG1):c.803-4G>T
NM_000045.4(ARG1):c.803-9T>A rs1296257255
NM_000045.4(ARG1):c.803-9T>C rs1296257255
NM_000045.4(ARG1):c.804G>C (p.Gly268=) rs747275658
NM_000045.4(ARG1):c.807_811del (p.Leu270fs) rs1562361751
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.810C>T (p.Leu270=)
NM_000045.4(ARG1):c.811_812del (p.Ser271fs) rs1585429783
NM_000045.4(ARG1):c.815del (p.Gly272fs) rs1774059448
NM_000045.4(ARG1):c.818T>G (p.Leu273Ter)
NM_000045.4(ARG1):c.819del (p.Asp274fs) rs2114551021
NM_000045.4(ARG1):c.820_823dup (p.Ile275fs) rs1562361762
NM_000045.4(ARG1):c.825A>C (p.Ile275=) rs781780752
NM_000045.4(ARG1):c.829del (p.Glu277fs) rs2482390987
NM_000045.4(ARG1):c.832G>C (p.Val278Leu) rs770050608
NM_000045.4(ARG1):c.833T>G (p.Val278Gly)
NM_000045.4(ARG1):c.837C>T (p.Asn279=) rs2482391066
NM_000045.4(ARG1):c.839C>T (p.Pro280Leu) rs1473029048
NM_000045.4(ARG1):c.839del (p.Pro280fs) rs2114551140
NM_000045.4(ARG1):c.840A>C (p.Pro280=) rs1585429947
NM_000045.4(ARG1):c.844del (p.Leu282fs) rs1562361837
NM_000045.4(ARG1):c.849G>A (p.Gly283=) rs1774062925
NM_000045.4(ARG1):c.84T>C (p.Pro28=) rs2482334270
NM_000045.4(ARG1):c.852G>C (p.Lys284Asn) rs1774063052
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys) rs932875709
NM_000045.4(ARG1):c.869C>G (p.Thr290Ser) rs104893942
NM_000045.4(ARG1):c.874del (p.Thr292fs) rs771395982
NM_000045.4(ARG1):c.875C>G (p.Thr292Arg) rs2114551376
NM_000045.4(ARG1):c.876A>G (p.Thr292=) rs2482391539
NM_000045.4(ARG1):c.876A>T (p.Thr292=) rs2482391539
NM_000045.4(ARG1):c.877G>C (p.Val293Leu) rs763625573
NM_000045.4(ARG1):c.877del (p.Thr292_Val293insTer) rs2482391576
NM_000045.4(ARG1):c.87A>C (p.Thr29=) rs1373647667
NM_000045.4(ARG1):c.87A>G (p.Thr29=) rs1373647667
NM_000045.4(ARG1):c.885A>G (p.Thr295=) rs750083218
NM_000045.4(ARG1):c.885A>T (p.Thr295=) rs750083218
NM_000045.4(ARG1):c.892G>A (p.Ala298Thr) rs755359126
NM_000045.4(ARG1):c.892del (p.Ala298fs)
NM_000045.4(ARG1):c.896T>A (p.Ile299Lys) rs781676090
NM_000045.4(ARG1):c.897A>C (p.Ile299=)
NM_000045.4(ARG1):c.900C>G (p.Thr300=) rs2482391852
NM_000045.4(ARG1):c.901T>C (p.Leu301=) rs748708936
NM_000045.4(ARG1):c.903G>A (p.Leu301=) rs2114551538
NM_000045.4(ARG1):c.906T>G (p.Ala302=) rs2482391920
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) rs866970619
NM_000045.4(ARG1):c.918T>C (p.Leu306=) rs2482392036
NM_000045.4(ARG1):c.920C>T (p.Ala307Val) rs774505525
NM_000045.4(ARG1):c.927G>A (p.Glu309=) rs2482392154
NM_000045.4(ARG1):c.929G>T (p.Gly310Val) rs2482392181
NM_000045.4(ARG1):c.92T>G (p.Leu31Trp) rs1773630009
NM_000045.4(ARG1):c.934C>T (p.His312Tyr) rs763958621
NM_000045.4(ARG1):c.936C>A (p.His312Gln) rs776119677
NM_000045.4(ARG1):c.936C>T (p.His312=) rs776119677
NM_000045.4(ARG1):c.938del (p.Lys313fs) rs1554251356
NM_000045.4(ARG1):c.939G>C (p.Lys313Asn) rs1774069461
NM_000045.4(ARG1):c.93G>A (p.Leu31=) rs1773630165
NM_000045.4(ARG1):c.945dup (p.Asp316Ter) rs1420954130
NM_000045.4(ARG1):c.957C>A (p.Asn319Lys) rs2482392459
NM_000045.4(ARG1):c.959_962del (p.Pro320fs) rs1554251368
NM_000045.4(ARG1):c.963T>C (p.Pro321=) rs2114551913

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