ClinVar Miner

List of variants reported as uncertain significance for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 503
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NC_000022.11:g.40345568C>A rs1358901512 0.00053
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195 0.00036
NC_000022.11:g.40345598C>G rs941360483 0.00020
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) rs150228971 0.00019
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.*45A>T rs180726920 0.00017
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577 0.00016
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NC_000022.11:g.40345958C>T rs558615182 0.00014
NC_000022.11:g.40345513A>C rs988634184 0.00013
NC_000022.11:g.40345530C>T rs753742645 0.00012
NM_000026.4(ADSL):c.-37C>G rs372357778 0.00012
NC_000022.11:g.40345587A>G rs9607708 0.00011
NC_000022.11:g.40346371G>C rs777987980 0.00011
NC_000022.11:g.40346412G>C rs973872264 0.00011
NC_000022.11:g.40346141T>A rs1261528478 0.00009
NC_000022.11:g.40346143T>C rs978591450 0.00009
NC_000022.11:g.40346381A>C rs771316335 0.00009
NC_000022.11:g.40346247A>G rs1283422769 0.00008
NC_000022.11:g.40345639T>C rs528540026 0.00006
NC_000022.11:g.40345994G>C rs1032678851 0.00006
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) rs772974251 0.00006
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) rs368501116 0.00006
NM_000026.4(ADSL):c.792+6T>C rs768892416 0.00006
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) rs376912453 0.00006
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451 0.00005
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941 0.00005
NC_000022.11:g.40345595G>T rs905746040 0.00004
NC_000022.11:g.40345634T>C rs897270801 0.00004
NC_000022.11:g.40345661C>T rs891295346 0.00004
NC_000022.11:g.40345972A>G rs898010972 0.00004
NC_000022.11:g.40346228C>G rs1426828844 0.00004
NC_000022.11:g.40346449G>C rs554145337 0.00004
NC_000022.11:g.40346478G>C rs936856129 0.00004
NM_000026.4(ADSL):c.1011-9G>C rs780794164 0.00004
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) rs568567422 0.00004
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778 0.00004
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731 0.00004
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) rs775671027 0.00004
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg) rs776685935 0.00004
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157 0.00004
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NC_000022.11:g.40345484A>C rs1386684080 0.00003
NC_000022.11:g.40345635T>C rs1380960379 0.00003
NC_000022.11:g.40346063C>T rs927109163 0.00003
NC_000022.11:g.40346104C>G rs1293829192 0.00003
NC_000022.11:g.40346323C>A rs756420450 0.00003
NC_000022.11:g.40346401G>T rs1001687278 0.00003
NM_000026.4(ADSL):c.-11G>T rs200713871 0.00003
NM_000026.4(ADSL):c.-12C>T rs775388314 0.00003
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584 0.00003
NM_000026.4(ADSL):c.153G>A (p.Gln51=) rs1214023402 0.00003
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg) rs772345709 0.00003
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln) rs540648461 0.00003
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00003
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly) rs147194356 0.00003
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000026.4(ADSL):c.896T>C (p.Met299Thr) rs1364564756 0.00003
NC_000022.11:g.40345716C>T rs978423465 0.00002
NC_000022.11:g.40346060T>C rs998527385 0.00002
NC_000022.11:g.40346240T>C rs752718206 0.00002
NC_000022.11:g.40346280T>A rs1301796620 0.00002
NC_000022.11:g.40346408C>A rs962543409 0.00002
NC_000022.11:g.40346417C>T rs951357741 0.00002
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met) rs151095874 0.00002
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) rs752238667 0.00002
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) rs755688868 0.00002
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser) rs781253590 0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys) rs770916318 0.00002
NM_000026.4(ADSL):c.20A>G (p.His7Arg) rs377248090 0.00002
NM_000026.4(ADSL):c.262G>T (p.Val88Leu) rs1329100297 0.00002
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe) rs1262658484 0.00002
NM_000026.4(ADSL):c.541A>G (p.Met181Val) rs768542145 0.00002
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr) rs776615568 0.00002
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly) rs775115015 0.00002
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr) rs1389806424 0.00002
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) rs369617680 0.00002
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys) rs370221257 0.00002
NC_000022.11:g.40345462C>T rs925724663 0.00001
NC_000022.11:g.40345597G>A rs1470349903 0.00001
NC_000022.11:g.40345624A>C rs1178062153 0.00001
NC_000022.11:g.40345643T>C rs1018230570 0.00001
NC_000022.11:g.40345669C>T rs1386791712 0.00001
NC_000022.11:g.40345705A>T rs968250682 0.00001
NC_000022.11:g.40345709C>A rs1170425980 0.00001
NC_000022.11:g.40345764G>A rs2044113487 0.00001
NC_000022.11:g.40345770A>G rs1410879144 0.00001
NC_000022.11:g.40345855C>G rs1307229331 0.00001
NC_000022.11:g.40345885C>G rs868152963 0.00001
NC_000022.11:g.40345919C>T rs1316024893 0.00001
NC_000022.11:g.40345927G>A rs1197880670 0.00001
NC_000022.11:g.40345933T>C rs1273326006 0.00001
NC_000022.11:g.40345934G>A rs1428135725 0.00001
NC_000022.11:g.40345997G>A rs376903282 0.00001
NC_000022.11:g.40346004G>A rs1010283787 0.00001
NC_000022.11:g.40346022C>A rs1465603644 0.00001
NC_000022.11:g.40346188G>C rs1399154446 0.00001
NC_000022.11:g.40346269G>A rs1258655937 0.00001
NC_000022.11:g.40346305G>A rs1039907516 0.00001
NC_000022.11:g.40346353G>A rs1273594576 0.00001
NC_000022.11:g.40346360G>A rs1379918231 0.00001
NC_000022.11:g.40346377A>C rs749450413 0.00001
NC_000022.11:g.40346386T>A rs1469357773 0.00001
NC_000022.11:g.40346400C>A rs376911964 0.00001
NC_000022.11:g.40346418G>C rs986851841 0.00001
NC_000022.11:g.40346443C>G rs1325872618 0.00001
NC_000022.11:g.40346456C>G rs533768359 0.00001
NC_000022.11:g.40346489C>G rs949660803 0.00001
NC_000022.11:g.40346493G>A rs558397990 0.00001
NM_000026.2(ADSL):c.-64C>A rs576843830 0.00001
NM_000026.4(ADSL):c.-31C>T rs747293932 0.00001
NM_000026.4(ADSL):c.-32C>T rs1420977984 0.00001
NM_000026.4(ADSL):c.-56T>A rs1338979561 0.00001
NM_000026.4(ADSL):c.1011-3T>C rs1376448837 0.00001
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) rs780994144 0.00001
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147 0.00001
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr) rs752735865 0.00001
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala) rs758895348 0.00001
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His) rs1395622939 0.00001
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser) rs778401578 0.00001
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) rs796052247 0.00001
NM_000026.4(ADSL):c.1138A>G (p.Met380Val) rs368160421 0.00001
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile) rs2044914041 0.00001
NM_000026.4(ADSL):c.1159A>G (p.Met387Val) rs1264910912 0.00001
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile) rs766782678 0.00001
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr) rs1196254689 0.00001
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe) rs571597579 0.00001
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg) rs372650859 0.00001
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) rs886057505 0.00001
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) rs796052248 0.00001
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn) rs554254383 0.00001
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) rs749427506 0.00001
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250 0.00001
NM_000026.4(ADSL):c.146C>T (p.Ala49Val) rs752938873 0.00001
NM_000026.4(ADSL):c.205C>G (p.Leu69Val) rs200169254 0.00001
NM_000026.4(ADSL):c.258T>G (p.His86Gln) rs1327764464 0.00001
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) rs149165656 0.00001
NM_000026.4(ADSL):c.271C>G (p.His91Asp) rs755518176 0.00001
NM_000026.4(ADSL):c.274G>A (p.Val92Met) rs763852823 0.00001
NM_000026.4(ADSL):c.357+4G>A rs1230823834 0.00001
NM_000026.4(ADSL):c.366T>G (p.Ile122Met) rs2044410316 0.00001
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile) rs2044410415 0.00001
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221 0.00001
NM_000026.4(ADSL):c.403-3T>C rs766286760 0.00001
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn) rs757413931 0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) rs746180694 0.00001
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser) rs2044467047 0.00001
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser) rs753065207 0.00001
NM_000026.4(ADSL):c.475C>T (p.His159Tyr) rs1310213333 0.00001
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu) rs541051390 0.00001
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457 0.00001
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp) rs376533106 0.00001
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184 0.00001
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile) rs745524617 0.00001
NM_000026.4(ADSL):c.632T>A (p.Leu211His) rs2044669605 0.00001
NM_000026.4(ADSL):c.793-5C>A rs377164829 0.00001
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126 0.00001
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) rs181252862 0.00001
NM_000026.4(ADSL):c.809G>A (p.Arg270His) rs760189192 0.00001
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) rs371529148 0.00001
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu) rs796052246 0.00001
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg) rs2044779637 0.00001
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala) rs776328750 0.00001
NM_000026.4(ADSL):c.899G>A (p.Arg300His) rs864309550 0.00001
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666 0.00001
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123 0.00001
NC_000022.10:g.(?_35776672)_(42486826_?)dup
NC_000022.10:g.(?_39621728)_(41077932_?)dup
NC_000022.10:g.(?_40742514)_(40762546_?)dup
NC_000022.11:g.(?_40346510)_(40353137_?)dup
NC_000022.11:g.(?_40364256)_(40366542_?)dup
NC_000022.11:g.40345463del
NC_000022.11:g.40345472C>T rs1437272102
NC_000022.11:g.40345473G>A rs934394588
NC_000022.11:g.40345481C>T rs2146607081
NC_000022.11:g.40345495T>C rs2146607102
NC_000022.11:g.40345502G>A rs2044101814
NC_000022.11:g.40345505C>G
NC_000022.11:g.40345505C>T
NC_000022.11:g.40345507A>T rs2044102028
NC_000022.11:g.40345513A>G
NC_000022.11:g.40345514C>T
NC_000022.11:g.40345517T>C
NC_000022.11:g.40345544T>C rs2044103206
NC_000022.11:g.40345557A>G
NC_000022.11:g.40345560T>C rs2044103495
NC_000022.11:g.40345563C>T rs1014469698
NC_000022.11:g.40345566G>T rs2146607321
NC_000022.11:g.40345571T>G
NC_000022.11:g.40345573T>C
NC_000022.11:g.40345588_40345589insAAAAAAAAGG
NC_000022.11:g.40345588_40345589insAAAAAAAG
NC_000022.11:g.40345588_40345589insAAAAAAGG
NC_000022.11:g.40345588_40345589insAAG
NC_000022.11:g.40345588_40345589insAGG
NC_000022.11:g.40345590G>A rs897965743
NC_000022.11:g.40345590G>T rs897965743
NC_000022.11:g.40345591G>T
NC_000022.11:g.40345592G>A rs950048889
NC_000022.11:g.40345592G>C
NC_000022.11:g.40345594G>C
NC_000022.11:g.40345596G>A
NC_000022.11:g.40345597G>T rs1470349903
NC_000022.11:g.40345597dup
NC_000022.11:g.40345600A>G
NC_000022.11:g.40345601C>G
NC_000022.11:g.40345604G>A rs2146607753
NC_000022.11:g.40345606G>A
NC_000022.11:g.40345621TTTA[2] rs2044109357
NC_000022.11:g.40345622_40345627del
NC_000022.11:g.40345631T>C rs2146607888
NC_000022.11:g.40345635dup rs1206371108
NC_000022.11:g.40345636_40345637del
NC_000022.11:g.40345636_40345639del rs952409371
NC_000022.11:g.40345647dup rs113688962
NC_000022.11:g.40345651G>A
NC_000022.11:g.40345658T>A
NC_000022.11:g.40345663CT[1]
NC_000022.11:g.40345670G>T
NC_000022.11:g.40345676G>A rs1018543619
NC_000022.11:g.40345676G>C
NC_000022.11:g.40345683T>G rs2146608173
NC_000022.11:g.40345686A>G rs866097692
NC_000022.11:g.40345694G>A rs2146608187
NC_000022.11:g.40345697C>T rs547176744
NC_000022.11:g.40345699del rs2146608197
NC_000022.11:g.40345709C>G
NC_000022.11:g.40345714_40345716dup
NC_000022.11:g.40345723C>A
NC_000022.11:g.40345726G>A
NC_000022.11:g.40345742T>A rs557264711
NC_000022.11:g.40345803dup rs1165283078
NC_000022.11:g.40345805T>C rs2146608408
NC_000022.11:g.40345820del rs2146608473
NC_000022.11:g.40345822G>A
NC_000022.11:g.40345827C>T
NC_000022.11:g.40345830G>C rs927256177
NC_000022.11:g.40345847C>G
NC_000022.11:g.40345856C>T
NC_000022.11:g.40345860G>A
NC_000022.11:g.40345873G>A
NC_000022.11:g.40345873G>C rs146387429
NC_000022.11:g.40345877G>A
NC_000022.11:g.40345887C>T rs897153956
NC_000022.11:g.40345895G>A
NC_000022.11:g.40345898_40345911del
NC_000022.11:g.40345905C>T rs1051195380
NC_000022.11:g.40345910G>A
NC_000022.11:g.40345917A>C
NC_000022.11:g.40345924C>T
NC_000022.11:g.40345926G>A
NC_000022.11:g.40345930C>T
NC_000022.11:g.40345931A>G rs2146609004
NC_000022.11:g.40345952G>T rs2044120214
NC_000022.11:g.40345954T>C
NC_000022.11:g.40345968C>G rs742139
NC_000022.11:g.40345969_40345970del rs2146609166
NC_000022.11:g.40345971C>T rs1040260159
NC_000022.11:g.40345978C>G
NC_000022.11:g.40345982A>C
NC_000022.11:g.40345987C>A
NC_000022.11:g.40345993C>T rs2146609240
NC_000022.11:g.40345994G>A
NC_000022.11:g.40345998C>A
NC_000022.11:g.40345999G>C rs2146609261
NC_000022.11:g.40346011A>G
NC_000022.11:g.40346016G>A rs1421868511
NC_000022.11:g.40346019G>A rs1024075575
NC_000022.11:g.40346019G>T
NC_000022.11:g.40346027G>A
NC_000022.11:g.40346032_40346033del rs1359178555
NC_000022.11:g.40346037dup
NC_000022.11:g.40346039dup rs1396866470
NC_000022.11:g.40346049T>C rs562792922
NC_000022.11:g.40346052A>C
NC_000022.11:g.40346058C>A rs79742008
NC_000022.11:g.40346065_40346067del rs2146609595
NC_000022.11:g.40346083C>G
NC_000022.11:g.40346089C>T rs2146609641
NC_000022.11:g.40346116C>A rs77895579
NC_000022.11:g.40346117C>T
NC_000022.11:g.40346117_40346119del
NC_000022.11:g.40346117_40346120del
NC_000022.11:g.40346135T>G
NC_000022.11:g.40346147T>C
NC_000022.11:g.40346158C>T rs2146610168
NC_000022.11:g.40346158del rs528311466
NC_000022.11:g.40346161G>C
NC_000022.11:g.40346165G>T rs909204
NC_000022.11:g.40346180C>G
NC_000022.11:g.40346188G>T
NC_000022.11:g.40346189T>G rs2146610277
NC_000022.11:g.40346200C>T
NC_000022.11:g.40346222C>T
NC_000022.11:g.40346230C>G rs2044131436
NC_000022.11:g.40346236G>A
NC_000022.11:g.40346243G>A
NC_000022.11:g.40346245T>C
NC_000022.11:g.40346275G>A
NC_000022.11:g.40346276G>A rs540176537
NC_000022.11:g.40346283_40346292del
NC_000022.11:g.40346287G>A
NC_000022.11:g.40346289A>G rs1601541349
NC_000022.11:g.40346304G>A
NC_000022.11:g.40346313A>C rs2146610598
NC_000022.11:g.40346324G>A rs1000950960
NC_000022.11:g.40346329A>C rs2146610651
NC_000022.11:g.40346339G>A rs2146610710
NC_000022.11:g.40346350C>T
NC_000022.11:g.40346357C>A rs2146610771
NC_000022.11:g.40346358T>C rs2146610772
NC_000022.11:g.40346371G>T rs777987980
NC_000022.11:g.40346374C>G rs1024378498
NC_000022.11:g.40346377A>T rs749450413
NC_000022.11:g.40346385C>A
NC_000022.11:g.40346389G>A
NC_000022.11:g.40346390G>A
NC_000022.11:g.40346398A>G
NC_000022.11:g.40346402G>A rs181976442
NC_000022.11:g.40346402G>C rs181976442
NC_000022.11:g.40346406T>C
NC_000022.11:g.40346409T>C rs2146611034
NC_000022.11:g.40346418G>T
NC_000022.11:g.40346420C>T
NC_000022.11:g.40346422G>C rs2146611167
NC_000022.11:g.40346424G>A rs186550906
NC_000022.11:g.40346424G>T
NC_000022.11:g.40346427C>G rs2044138563
NC_000022.11:g.40346432C>A rs190560535
NC_000022.11:g.40346432C>G rs190560535
NC_000022.11:g.40346433G>A rs1284184707
NC_000022.11:g.40346434C>T
NC_000022.11:g.40346436C>T
NC_000022.11:g.40346438G>C rs1286138763
NC_000022.11:g.40346450C>T
NC_000022.11:g.40346453G>C
NC_000022.11:g.40346456C>A rs533768359
NC_000022.11:g.40346457G>A
NC_000022.11:g.40346465G>A
NC_000022.11:g.40346472C>T
NC_000022.11:g.40346473G>C
NC_000022.11:g.40346474C>A rs2146611525
NC_000022.11:g.40346477_40346491dup
NC_000022.11:g.40346482C>T
NC_000022.11:g.40346482_40346491dup rs2146611569
NC_000022.11:g.40346483G>A rs892749175
NC_000022.11:g.40346484_40346493del rs2146611602
NC_000022.11:g.40346488G>A rs2146611643
NC_000022.11:g.40346489C>T rs949660803
NC_000022.11:g.40346491del
NC_000022.11:g.40346492T>G
NM_000026.4(ADSL):c.-10C>G
NM_000026.4(ADSL):c.-15G>A
NM_000026.4(ADSL):c.-18C>A rs745531733
NM_000026.4(ADSL):c.-20G>T rs1601542242
NM_000026.4(ADSL):c.-21T>A
NM_000026.4(ADSL):c.-27C>A rs1294310669
NM_000026.4(ADSL):c.-29G>C rs2044143205
NM_000026.4(ADSL):c.-35G>C rs750649096
NM_000026.4(ADSL):c.-35G>T rs750649096
NM_000026.4(ADSL):c.-37C>T
NM_000026.4(ADSL):c.-44C>G rs763900902
NM_000026.4(ADSL):c.-51G>A
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys) rs2146663691
NM_000026.4(ADSL):c.100T>C (p.Tyr34His) rs1434292876
NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu)
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val) rs2146667776
NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg)
NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala)
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg) rs2146612211
NM_000026.4(ADSL):c.1101+6_1101+8del rs2146668021
NM_000026.4(ADSL):c.1102-6C>G rs758666194
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.4(ADSL):c.1117A>G (p.Ile373Val)
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala) rs766546584
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) rs754714101
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe) rs2146673676
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu) rs774693972
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn) rs2044942817
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del) rs778107338
NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)
NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys)
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys) rs1265053994
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile) rs372895468
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys) rs572438339
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp) rs2044948939
NM_000026.4(ADSL):c.1364dup (p.Gln456fs)
NM_000026.4(ADSL):c.1365G>T (p.Gln455His) rs1011687452
NM_000026.4(ADSL):c.1368+4A>C rs2146674336
NM_000026.4(ADSL):c.1368G>A (p.Gln456=)
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu) rs747385959
NM_000026.4(ADSL):c.1371dup (p.Gln458fs)
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu) rs1569104977
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile) rs768999974
NM_000026.4(ADSL):c.140C>T (p.Ala47Val) rs759704594
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg) rs748593655
NM_000026.4(ADSL):c.1423G>A (p.Val475Met) rs1158489609
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile) rs773810168
NM_000026.4(ADSL):c.142G>A (p.Glu48Lys)
NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del)
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp) rs1424823421
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr) rs371242331
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys) rs1380095056
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp) rs765813625
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg) rs544172142
NM_000026.4(ADSL):c.175G>A (p.Asp59Asn)
NM_000026.4(ADSL):c.17A>T (p.Asp6Val) rs1314470860
NM_000026.4(ADSL):c.197A>C (p.Lys66Thr)
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) rs796052251
NM_000026.4(ADSL):c.19C>G (p.His7Asp) rs778590882
NM_000026.4(ADSL):c.216C>G (p.Ile72Met) rs145786986
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn) rs745787396
NM_000026.4(ADSL):c.226A>C (p.Met76Leu) rs145306334
NM_000026.4(ADSL):c.227T>C (p.Met76Thr)
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln) rs768958353
NM_000026.4(ADSL):c.248G>A (p.Arg83His)
NM_000026.4(ADSL):c.257A>G (p.His86Arg) rs2044280567
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000026.4(ADSL):c.274G>T (p.Val92Leu) rs763852823
NM_000026.4(ADSL):c.278A>G (p.His93Arg)
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala) rs768340455
NM_000026.4(ADSL):c.304G>T (p.Ala102Ser)
NM_000026.4(ADSL):c.319C>T (p.His107Tyr) rs2146623366
NM_000026.4(ADSL):c.31G>C (p.Asp11His) rs761759515
NM_000026.4(ADSL):c.328G>A (p.Ala110Thr)
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu) rs768596079
NM_000026.4(ADSL):c.357T>C (p.Thr119=) rs2146623601
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg) rs773098808
NM_000026.4(ADSL):c.386A>G (p.Asp129Gly)
NM_000026.4(ADSL):c.402+6G>A rs2146634344
NM_000026.4(ADSL):c.407C>T (p.Ala136Val) rs1569091418
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu) rs371824098
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln) rs747546394
NM_000026.4(ADSL):c.449C>G (p.Ala150Gly)
NM_000026.4(ADSL):c.482+3A>T
NM_000026.4(ADSL):c.482+8A>G rs886042606
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)
NM_000026.4(ADSL):c.51T>A (p.Leu17=) rs2146612540
NM_000026.4(ADSL):c.527T>C (p.Ile176Thr)
NM_000026.4(ADSL):c.541A>T (p.Met181Leu) rs768542145
NM_000026.4(ADSL):c.543G>A (p.Met181Ile)
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)
NM_000026.4(ADSL):c.56C>T (p.Ser19Phe)
NM_000026.4(ADSL):c.572A>G (p.Asp191Gly)
NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr)
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro) rs2044667301
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu) rs2146653850
NM_000026.4(ADSL):c.5C>T (p.Ala2Val) rs143083947
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp) rs2044668344
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser) rs745524617
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly) rs746848060
NM_000026.4(ADSL):c.618C>T (p.Ala206=)
NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys)
NM_000026.4(ADSL):c.639G>T (p.Glu213Asp)
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly) rs1311483271
NM_000026.4(ADSL):c.649C>T (p.His217Tyr) rs199761158
NM_000026.4(ADSL):c.655-42_655-8del rs2146654480
NM_000026.4(ADSL):c.655G>A (p.Val219Ile) rs1555907605
NM_000026.4(ADSL):c.655G>T (p.Val219Leu) rs1555907605
NM_000026.4(ADSL):c.701+3A>G
NM_000026.4(ADSL):c.702-3T>A rs1229114572
NM_000026.4(ADSL):c.712A>G (p.Ile238Val) rs2146658688
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del) rs769288234
NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)
NM_000026.4(ADSL):c.779C>T (p.Ala260Val) rs1601586537
NM_000026.4(ADSL):c.785T>C (p.Val262Ala) rs2044740915
NM_000026.4(ADSL):c.792+5G>C rs761153103
NM_000026.4(ADSL):c.793-3C>T rs2044774129
NM_000026.4(ADSL):c.818C>T (p.Ala273Val) rs962521087
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp) rs2146662052
NM_000026.4(ADSL):c.832A>G (p.Met278Val) rs2044778052
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu) rs371529148
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser) rs2146662152
NM_000026.4(ADSL):c.859A>G (p.Ile287Val) rs1209918065
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn) rs2044788172
NM_000026.4(ADSL):c.872C>T (p.Ala291Val) rs2044788378
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys) rs2044789747
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys) rs369617680
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly) rs2044145822
NM_000026.4(ADSL):c.908G>A (p.Arg303His)
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly) rs2146663371
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly) rs1006262492
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe) rs2044790556
NM_000026.4(ADSL):c.946A>G (p.Met316Val) rs2044791557
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile) rs1243449413
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg) rs1484677062
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys) rs1224557562
NM_000026.4(ADSL):c.979T>C (p.Phe327Leu)
NM_000026.4(ADSL):c.97A>C (p.Arg33=)

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.