ClinVar Miner

List of variants studied for adenosine monophosphate deaminase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 523
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HGVS dbSNP gnomAD frequency
NM_001025389.1(AMPD3):c.-239G>C rs899012 0.99541
NM_001025389.2(AMPD3):c.*1585G>A rs1545743 0.99471
NM_001025389.2(AMPD3):c.*1090A>G rs1037998 0.99467
NM_001025389.2(AMPD3):c.*694A>G rs2169594 0.97808
NM_001025389.2(AMPD3):c.*1052A>G rs9292 0.94087
NM_001025389.2(AMPD3):c.-103T>C rs899011 0.72968
NM_001025389.1(AMPD3):c.-312A>G rs899013 0.60011
NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=) rs3741041 0.32346
NM_001025389.2(AMPD3):c.*1070A>G rs7416 0.15810
NM_001025389.2(AMPD3):c.-88G>T rs28403593 0.15242
NM_001025389.2(AMPD3):c.573G>A (p.Pro191=) rs16907852 0.14463
NM_001025389.2(AMPD3):c.-82T>G rs58115104 0.13519
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_001025389.1(AMPD3):c.-303C>T rs2071019 0.06605
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_001025389.2(AMPD3):c.669C>T (p.His223=) rs34319136 0.02210
NM_001025389.2(AMPD3):c.1674C>T (p.Tyr558=) rs114718879 0.01986
NM_001025389.2(AMPD3):c.*287T>C rs76318574 0.01748
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_001025389.2(AMPD3):c.1131C>T (p.His377=) rs76407515 0.01030
NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser) rs75286033 0.01024
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_000036.3(AMPD1):c.243T>G (p.Thr81=) rs115655141 0.00686
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=) rs80266556 0.00682
NM_000036.3(AMPD1):c.552T>C (p.Phe184=) rs35197706 0.00657
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=) rs34287100 0.00557
NM_001025389.2(AMPD3):c.*75C>T rs59351157 0.00550
NM_001025389.2(AMPD3):c.960G>A (p.Ala320=) rs75283041 0.00523
NM_001025389.2(AMPD3):c.426+8G>A rs150321693 0.00477
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=) rs34257411 0.00419
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=) rs34778674 0.00417
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
NM_001025389.2(AMPD3):c.*1245G>A rs114908387 0.00250
NM_001025389.2(AMPD3):c.*1221T>C rs139597662 0.00222
NM_001025389.2(AMPD3):c.*327G>C rs146002789 0.00212
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_001025389.2(AMPD3):c.1569T>G (p.Phe523Leu) rs146000615 0.00157
NM_001025389.2(AMPD3):c.-25C>T rs576679601 0.00150
NM_000036.3(AMPD1):c.1224+7C>T rs191152112 0.00139
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser) rs144613367 0.00116
NM_001025389.1(AMPD3):c.-200G>A rs180772894 0.00108
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_000036.3(AMPD1):c.767+18C>A rs146422068 0.00084
NM_001025389.2(AMPD3):c.1080C>T (p.Asp360=) rs139511483 0.00081
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) rs138993729 0.00079
NM_001025389.2(AMPD3):c.974A>G (p.Asn325Ser) rs147246880 0.00075
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_001025389.2(AMPD3):c.423C>T (p.Ala141=) rs117002871 0.00066
NM_001025389.2(AMPD3):c.1728C>T (p.Arg576=) rs150947905 0.00064
NM_001025389.2(AMPD3):c.283G>A (p.Asp95Asn) rs149433198 0.00060
NM_001025389.2(AMPD3):c.1267-3C>T rs369778695 0.00059
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) rs140181682 0.00053
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_001025389.2(AMPD3):c.1445C>T (p.Ser482Leu) rs144107914 0.00049
NM_001025389.2(AMPD3):c.885C>T (p.Ser295=) rs149271802 0.00048
NM_000036.3(AMPD1):c.195C>T (p.Ser65=) rs150208948 0.00044
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_001025389.2(AMPD3):c.1771G>A (p.Gly591Ser) rs142086203 0.00042
NM_000036.3(AMPD1):c.216-9C>T rs570832252 0.00040
NM_000036.3(AMPD1):c.1975-12A>T rs189530823 0.00036
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_001025389.2(AMPD3):c.498G>A (p.Ala166=) rs147701905 0.00029
NM_001025389.2(AMPD3):c.427-13C>T rs374707086 0.00028
NM_001025389.2(AMPD3):c.*1520A>G rs548862296 0.00027
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_000036.3(AMPD1):c.1819T>C (p.Leu607=) rs141900642 0.00025
NM_000036.3(AMPD1):c.22+15T>A rs371487865 0.00022
NM_001025389.2(AMPD3):c.1066C>T (p.Arg356Trp) rs149809940 0.00021
NM_001025389.2(AMPD3):c.408C>T (p.Ser136=) rs542609298 0.00021
NM_000036.3(AMPD1):c.1800+16T>C rs374741261 0.00019
NM_001025389.2(AMPD3):c.1016C>T (p.Thr339Met) rs201115705 0.00019
NM_000036.3(AMPD1):c.1849A>G (p.Met617Val) rs565587413 0.00016
NM_001025389.2(AMPD3):c.*431A>G rs751822472 0.00016
NM_001025389.2(AMPD3):c.*845A>G rs529360394 0.00016
NM_001025389.2(AMPD3):c.1513A>G (p.Ile505Val) rs141457480 0.00016
NM_000036.3(AMPD1):c.681T>C (p.Asp227=) rs201988963 0.00014
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_001025389.2(AMPD3):c.1739C>T (p.Thr580Met) rs750830023 0.00013
NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val) rs776146662 0.00011
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_001025389.2(AMPD3):c.1729G>A (p.Gly577Ser) rs769751034 0.00011
NM_000036.3(AMPD1):c.440G>A (p.Arg147His) rs147852547 0.00010
NM_000036.3(AMPD1):c.1388+5G>A rs374144421 0.00009
NM_000036.3(AMPD1):c.1974+9T>C rs368331901 0.00009
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His) rs377325321 0.00009
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_001025389.2(AMPD3):c.459G>A (p.Lys153=) rs752821070 0.00009
NM_001025389.2(AMPD3):c.460A>G (p.Ser154Gly) rs756660564 0.00009
NM_000036.2(AMPD1):c.24T>C (p.Ser8=) rs377496676 0.00008
NM_000036.3(AMPD1):c.1400G>A (p.Arg467His) rs140957303 0.00008
NM_000036.3(AMPD1):c.200C>T (p.Ser67Phe) rs145315039 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040 0.00008
NM_001025389.2(AMPD3):c.991C>T (p.Arg331Cys) rs758038726 0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000036.3(AMPD1):c.1092+12C>T rs532506042 0.00006
NM_000036.3(AMPD1):c.1292G>A (p.Arg431His) rs61757695 0.00006
NM_000036.3(AMPD1):c.1389-16T>A rs778223264 0.00006
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) rs587779370 0.00006
NM_000036.3(AMPD1):c.1807G>A (p.Val603Met) rs776521726 0.00006
NM_001025389.2(AMPD3):c.*1536T>C rs866636048 0.00006
NM_001025389.2(AMPD3):c.1600G>A (p.Asp534Asn) rs750200570 0.00006
NM_001025389.2(AMPD3):c.2267C>G (p.Ala756Gly) rs144691269 0.00006
NM_001025389.2(AMPD3):c.2289C>T (p.Thr763=) rs138270366 0.00006
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_000036.3(AMPD1):c.990G>T (p.Val330=) rs754808704 0.00005
NM_001025389.2(AMPD3):c.*771C>T rs746976193 0.00005
NM_000036.3(AMPD1):c.-33T>C rs747318529 0.00004
NM_000036.3(AMPD1):c.103C>T (p.Arg35Cys) rs139512772 0.00004
NM_000036.3(AMPD1):c.1112G>A (p.Arg371His) rs146437677 0.00004
NM_000036.3(AMPD1):c.1174T>C (p.Leu392=) rs369767517 0.00004
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1473C>T (p.Ile491=) rs145557954 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.394G>A (p.Asp132Asn) rs149160130 0.00004
NM_000036.3(AMPD1):c.504C>T (p.Asn168=) rs374681411 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.636C>T (p.Asp212=) rs181412206 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_001025389.2(AMPD3):c.1824C>T (p.His608=) rs201980416 0.00004
NM_001025389.2(AMPD3):c.362C>T (p.Thr121Met) rs780348844 0.00004
NM_001025389.2(AMPD3):c.500G>T (p.Arg167Leu) rs764108261 0.00004
NM_001025389.2(AMPD3):c.600T>G (p.Pro200=) rs200373616 0.00004
NM_001025389.2(AMPD3):c.7C>T (p.Arg3Trp) rs148904594 0.00004
NM_001025389.2(AMPD3):c.939+13C>T rs776606981 0.00004
NM_000036.3(AMPD1):c.1097G>A (p.Arg366His) rs372451247 0.00003
NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr) rs758334449 0.00003
NM_000036.3(AMPD1):c.1236G>A (p.Ala412=) rs141829342 0.00003
NM_000036.3(AMPD1):c.1273C>T (p.Arg425Cys) rs187527797 0.00003
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg) rs370481249 0.00003
NM_000036.3(AMPD1):c.1800+15C>G rs570359428 0.00003
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_000036.3(AMPD1):c.2173A>G (p.Met725Val) rs778481612 0.00003
NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys) rs12566550 0.00003
NM_000036.3(AMPD1):c.376T>C (p.Ser126Pro) rs1183959177 0.00003
NM_000036.3(AMPD1):c.500G>A (p.Arg167Gln) rs368656142 0.00003
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys) rs376201207 0.00003
NM_000036.3(AMPD1):c.665C>T (p.Ala222Val) rs369685849 0.00003
NM_000036.3(AMPD1):c.801C>G (p.Leu267=) rs536037850 0.00003
NM_001025389.2(AMPD3):c.1267-13C>A rs376493129 0.00003
NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln) rs886047586 0.00003
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val) rs528215739 0.00002
NM_000036.3(AMPD1):c.144G>A (p.Pro48=) rs145786786 0.00002
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn) rs746816406 0.00002
NM_000036.3(AMPD1):c.2086-11T>C rs571218978 0.00002
NM_000036.3(AMPD1):c.216-8G>A rs762655218 0.00002
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000036.3(AMPD1):c.439C>T (p.Arg147Cys) rs147035391 0.00002
NM_000036.3(AMPD1):c.538T>C (p.Phe180Leu) rs777043982 0.00002
NM_000036.3(AMPD1):c.835G>A (p.Glu279Lys) rs777934972 0.00002
NM_000036.3(AMPD1):c.844G>A (p.Glu282Lys) rs748720444 0.00002
NM_000036.3(AMPD1):c.881T>G (p.Phe294Cys) rs763848203 0.00002
NM_000036.3(AMPD1):c.906C>T (p.Thr302=) rs1013897127 0.00002
NM_001025389.2(AMPD3):c.1258A>G (p.Met420Val) rs184691110 0.00002
NM_001025389.2(AMPD3):c.1452G>A (p.Lys484=) rs371018918 0.00002
NM_001025389.2(AMPD3):c.2118C>T (p.Leu706=) rs1394943119 0.00002
NM_000036.3(AMPD1):c.1000A>C (p.Thr334Pro) rs756169459 0.00001
NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser) rs1398708257 0.00001
NM_000036.3(AMPD1):c.1102A>G (p.Thr368Ala) rs1431463591 0.00001
NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro) rs762722076 0.00001
NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met) rs144014236 0.00001
NM_000036.3(AMPD1):c.1225-12T>C rs762334770 0.00001
NM_000036.3(AMPD1):c.1316T>G (p.Leu439Arg) rs1276731554 0.00001
NM_000036.3(AMPD1):c.1331T>A (p.Val444Asp) rs773253177 0.00001
NM_000036.3(AMPD1):c.1361C>T (p.Thr454Ile) rs768842182 0.00001
NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr) rs781739971 0.00001
NM_000036.3(AMPD1):c.1388+10T>C rs760486294 0.00001
NM_000036.3(AMPD1):c.1414C>A (p.Leu472Ile) rs761635115 0.00001
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile) rs1657968687 0.00001
NM_000036.3(AMPD1):c.1662G>T (p.Val554=) rs780245321 0.00001
NM_000036.3(AMPD1):c.1679+1G>C rs1311864516 0.00001
NM_000036.3(AMPD1):c.1680-20T>C rs771812174 0.00001
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln) rs760410776 0.00001
NM_000036.3(AMPD1):c.1743T>C (p.His581=) rs768544368 0.00001
NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile) rs1422341304 0.00001
NM_000036.3(AMPD1):c.180T>C (p.His60=) rs897295422 0.00001
NM_000036.3(AMPD1):c.1971C>G (p.Thr657=) rs756521034 0.00001
NM_000036.3(AMPD1):c.2086-19C>T rs1335023656 0.00001
NM_000036.3(AMPD1):c.215+8G>A rs781556684 0.00001
NM_000036.3(AMPD1):c.216-5C>T rs553915536 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) rs572362619 0.00001
NM_000036.3(AMPD1):c.510T>C (p.Asp170=) rs772153823 0.00001
NM_000036.3(AMPD1):c.52C>T (p.Arg18Cys) rs369335745 0.00001
NM_000036.3(AMPD1):c.687T>C (p.Pro229=) rs748174102 0.00001
NM_000036.3(AMPD1):c.782A>G (p.His261Arg) rs554380360 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.875G>A (p.Arg292Gln) rs1290122973 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_001025389.1(AMPD3):c.-240A>G rs886047584 0.00001
NM_001025389.1(AMPD3):c.-263T>C rs1336172653 0.00001
NM_001025389.2(AMPD3):c.-116A>C rs891567072 0.00001
NM_001025389.2(AMPD3):c.1087C>T (p.His363Tyr) rs886047587 0.00001
NM_001025389.2(AMPD3):c.1090A>G (p.Met364Val) rs979808372 0.00001
NM_001025389.2(AMPD3):c.110C>T (p.Ala37Val) rs375814372 0.00001
NM_001025389.2(AMPD3):c.1304A>G (p.Tyr435Cys) rs201772411 0.00001
NM_001025389.2(AMPD3):c.1496C>T (p.Pro499Leu) rs1446342474 0.00001
NM_001025389.2(AMPD3):c.1614C>T (p.Ser538=) rs781317958 0.00001
NC_000001.11:g.114695550A>G rs759414256
NM_000036.2(AMPD1):c.11G>A (p.Arg4Lys)
NM_000036.2(AMPD1):c.23G>T (p.Ser8Ile)
NM_000036.2(AMPD1):c.9C>T (p.Val3=) rs748160625
NM_000036.3(AMPD1):c.-15A>G
NM_000036.3(AMPD1):c.-31T>C
NM_000036.3(AMPD1):c.-42C>T
NM_000036.3(AMPD1):c.-45CTT[1]
NM_000036.3(AMPD1):c.-60dup rs770393080
NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile)
NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile) rs377513152
NM_000036.3(AMPD1):c.104G>A (p.Arg35His) rs147972392
NM_000036.3(AMPD1):c.104G>T (p.Arg35Leu) rs147972392
NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter) rs746801564
NM_000036.3(AMPD1):c.1075T>C (p.Ser359Pro)
NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile)
NM_000036.3(AMPD1):c.1092+12C>G rs532506042
NM_000036.3(AMPD1):c.1093-12T>A
NM_000036.3(AMPD1):c.1093-12T>C
NM_000036.3(AMPD1):c.1093-13T>C rs1657920976
NM_000036.3(AMPD1):c.1093-5T>C
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1118A>G (p.Asp373Gly)
NM_000036.3(AMPD1):c.1148G>A (p.Gly383Glu) rs769460760
NM_000036.3(AMPD1):c.1151C>A (p.Ala384Glu)
NM_000036.3(AMPD1):c.1158_1177del (p.Leu387fs)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val)
NM_000036.3(AMPD1):c.1170C>G (p.Leu390=) rs566349141
NM_000036.3(AMPD1):c.1173C>T (p.Tyr391=)
NM_000036.3(AMPD1):c.117C>T (p.Ser39=)
NM_000036.3(AMPD1):c.1188T>C (p.Asn396=) rs532589702
NM_000036.3(AMPD1):c.120C>G (p.Pro40=)
NM_000036.3(AMPD1):c.1220T>C (p.Ile407Thr)
NM_000036.3(AMPD1):c.1224+15A>G
NM_000036.3(AMPD1):c.1224+6G>A
NM_000036.3(AMPD1):c.1224+6G>T
NM_000036.3(AMPD1):c.1225-13C>A
NM_000036.3(AMPD1):c.1225-16T>A
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)
NM_000036.3(AMPD1):c.1242G>A (p.Leu414=)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1259A>G (p.Gln420Arg) rs1207724365
NM_000036.3(AMPD1):c.1268A>C (p.Glu423Ala) rs2101713600
NM_000036.3(AMPD1):c.1276C>G (p.Leu426Val) rs1658021879
NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu)
NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly)
NM_000036.3(AMPD1):c.1319C>A (p.Ser440Tyr)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1329C>T (p.Phe443=)
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)
NM_000036.3(AMPD1):c.1339C>A (p.Arg447Ser)
NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter) rs1447749222
NM_000036.3(AMPD1):c.1366A>T (p.Met456Leu)
NM_000036.3(AMPD1):c.1378C>T (p.Pro460Ser)
NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser)
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly) rs746166547
NM_000036.3(AMPD1):c.1383G>A (p.Arg461=)
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser) rs1371202947
NM_000036.3(AMPD1):c.1388+14C>T
NM_000036.3(AMPD1):c.1388+15A>G
NM_000036.3(AMPD1):c.1388+8C>A
NM_000036.3(AMPD1):c.1389-13T>C
NM_000036.3(AMPD1):c.1389-15C>A
NM_000036.3(AMPD1):c.1389-5T>C
NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly)
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr)
NM_000036.3(AMPD1):c.1425T>C (p.Phe475=)
NM_000036.3(AMPD1):c.1465G>A (p.Ala489Thr)
NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)
NM_000036.3(AMPD1):c.1476C>A (p.Asn492Lys) rs1570838359
NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)
NM_000036.3(AMPD1):c.1490C>T (p.Pro497Leu)
NM_000036.3(AMPD1):c.1504T>C (p.Phe502Leu) rs966578460
NM_000036.3(AMPD1):c.1515+20C>A rs751358383
NM_000036.3(AMPD1):c.1515+7A>G
NM_000036.3(AMPD1):c.1516-14A>G
NM_000036.3(AMPD1):c.1517T>C (p.Ile506Thr)
NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly)
NM_000036.3(AMPD1):c.1537G>A (p.Asp513Asn)
NM_000036.3(AMPD1):c.1557T>C (p.Ser519=) rs2101711850
NM_000036.3(AMPD1):c.1560C>G (p.Gly520=)
NM_000036.3(AMPD1):c.1562A>C (p.His521Pro) rs1156760290
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser)
NM_000036.3(AMPD1):c.156T>C (p.His52=)
NM_000036.3(AMPD1):c.1578G>A (p.Lys526=)
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu)
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser)
NM_000036.3(AMPD1):c.1590C>T (p.Pro530=)
NM_000036.3(AMPD1):c.1603T>C (p.Leu535=)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1637A>G (p.Tyr546Cys)
NM_000036.3(AMPD1):c.1659G>C (p.Met553Ile) rs1657954756
NM_000036.3(AMPD1):c.1662G>A (p.Val554=)
NM_000036.3(AMPD1):c.1679+1G>T
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln)
NM_000036.3(AMPD1):c.1706T>A (p.Phe569Tyr)
NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg) rs2101711121
NM_000036.3(AMPD1):c.1734C>T (p.Ala578=)
NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)
NM_000036.3(AMPD1):c.174A>T (p.Ile58=) rs375898522
NM_000036.3(AMPD1):c.1752A>G (p.Thr584=)
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)
NM_000036.3(AMPD1):c.1782T>C (p.His594=)
NM_000036.3(AMPD1):c.1800+12G>T
NM_000036.3(AMPD1):c.1800+14T>G
NM_000036.3(AMPD1):c.1800+7T>C
NM_000036.3(AMPD1):c.1806C>G (p.Pro602=)
NM_000036.3(AMPD1):c.1806C>T (p.Pro602=) rs148515775
NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly)
NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys) rs1354176888
NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter) rs1354176888
NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr)
NM_000036.3(AMPD1):c.186G>T (p.Glu62Asp) rs1017107552
NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val)
NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)
NM_000036.3(AMPD1):c.189T>G (p.Thr63=) rs202046815
NM_000036.3(AMPD1):c.190_191del (p.Leu64fs)
NM_000036.3(AMPD1):c.1924C>T (p.Leu642=) rs760814471
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr)
NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys)
NM_000036.3(AMPD1):c.1974+16G>T
NM_000036.3(AMPD1):c.1974+1G>C rs145328844
NM_000036.3(AMPD1):c.1974+7T>C
NM_000036.3(AMPD1):c.1974+8A>G
NM_000036.3(AMPD1):c.1975-18C>T
NM_000036.3(AMPD1):c.1975-20_1975-18dup
NM_000036.3(AMPD1):c.1979C>A (p.Pro660His) rs267597931
NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu) rs267597931
NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr) rs1657899229
NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly) rs2101710015
NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)
NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)
NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)
NM_000036.3(AMPD1):c.204A>T (p.Thr68=)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2086-3T>C
NM_000036.3(AMPD1):c.2086-7C>T
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln) rs759824860
NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)
NM_000036.3(AMPD1):c.2106C>T (p.Gly702=)
NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn)
NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val)
NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)
NM_000036.3(AMPD1):c.2133T>A (p.Ala711=) rs2101709600
NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu)
NM_000036.3(AMPD1):c.215+1G>A
NM_000036.3(AMPD1):c.215+6T>C
NM_000036.3(AMPD1):c.216-17T>G
NM_000036.3(AMPD1):c.216-2del
NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro)
NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu) rs146036570
NM_000036.3(AMPD1):c.2181T>A (p.Tyr727Ter) rs1657881990
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.21A>C (p.Pro7=)
NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg)
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) rs61738827
NM_000036.3(AMPD1):c.23-10C>T
NM_000036.3(AMPD1):c.23-4A>G rs1388958387
NM_000036.3(AMPD1):c.231_243del (p.Gly78fs)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.247A>G (p.Asn83Asp) rs749940824
NM_000036.3(AMPD1):c.255C>T (p.Ser85=)
NM_000036.3(AMPD1):c.261A>C (p.Pro87=)
NM_000036.3(AMPD1):c.282C>A (p.Thr94=) rs1395096733
NM_000036.3(AMPD1):c.285A>C (p.Lys95Asn)
NM_000036.3(AMPD1):c.2T>G (p.Met1Arg) rs2101730071
NM_000036.3(AMPD1):c.301G>C (p.Glu101Gln)
NM_000036.3(AMPD1):c.301G>T (p.Glu101Ter)
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.306C>T (p.Tyr102=)
NM_000036.3(AMPD1):c.308T>C (p.Ile103Thr)
NM_000036.3(AMPD1):c.309T>A (p.Ile103=) rs398123115
NM_000036.3(AMPD1):c.315A>C (p.Ser105=)
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile) rs547487220
NM_000036.3(AMPD1):c.328C>G (p.Gln110Glu) rs1284363894
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
NM_000036.3(AMPD1):c.333C>G (p.Thr111=)
NM_000036.3(AMPD1):c.333C>T (p.Thr111=) rs138479739
NM_000036.3(AMPD1):c.34+19T>C
NM_000036.3(AMPD1):c.34+3G>A
NM_000036.3(AMPD1):c.34+5G>A
NM_000036.3(AMPD1):c.343T>A (p.Phe115Ile)
NM_000036.3(AMPD1):c.345T>C (p.Phe115=)
NM_000036.3(AMPD1):c.35-16T>C
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.35-3T>C
NM_000036.3(AMPD1):c.35-7_35-4del rs398123114
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs)
NM_000036.3(AMPD1):c.369C>T (p.Asp123=)
NM_000036.3(AMPD1):c.375C>T (p.Ala125=)
NM_000036.3(AMPD1):c.381+17C>T
NM_000036.3(AMPD1):c.381+20T>C
NM_000036.3(AMPD1):c.381+7T>A
NM_000036.3(AMPD1):c.381G>A (p.Gly127=)
NM_000036.3(AMPD1):c.382-18C>T
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu)
NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu)
NM_000036.3(AMPD1):c.471G>A (p.Arg157=)
NM_000036.3(AMPD1):c.480A>G (p.Lys160=)
NM_000036.3(AMPD1):c.499C>T (p.Arg167Trp)
NM_000036.3(AMPD1):c.4C>T (p.Pro2Ser)
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) rs542684385
NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)
NM_000036.3(AMPD1):c.53G>T (p.Arg18Leu)
NM_000036.3(AMPD1):c.547+13T>C
NM_000036.3(AMPD1):c.547+15A>G
NM_000036.3(AMPD1):c.547+16del
NM_000036.3(AMPD1):c.586C>T (p.Arg196Ter) rs775029965
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala)
NM_000036.3(AMPD1):c.592G>C (p.Asp198His) rs267597934
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr)
NM_000036.3(AMPD1):c.624C>G (p.Leu208=) rs542388930
NM_000036.3(AMPD1):c.62C>T (p.Ala21Val) rs1570852851
NM_000036.3(AMPD1):c.633G>A (p.Lys211=)
NM_000036.3(AMPD1):c.638G>T (p.Gly213Val)
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.643G>A (p.Val215Ile) rs1165630426
NM_000036.3(AMPD1):c.653A>G (p.Tyr218Cys)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.670G>C (p.Val224Leu)
NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile)
NM_000036.3(AMPD1):c.726C>T (p.Asp242=)
NM_000036.3(AMPD1):c.727G>T (p.Asp243Tyr)
NM_000036.3(AMPD1):c.740dup (p.Leu247fs)
NM_000036.3(AMPD1):c.746C>T (p.Ala249Val)
NM_000036.3(AMPD1):c.754G>T (p.Ala252Ser)
NM_000036.3(AMPD1):c.759A>T (p.Gln253His)
NM_000036.3(AMPD1):c.767+12del
NM_000036.3(AMPD1):c.767+3_767+6del rs749694988
NM_000036.3(AMPD1):c.767+7G>A rs774393161
NM_000036.3(AMPD1):c.768-11A>G
NM_000036.3(AMPD1):c.768-19G>A
NM_000036.3(AMPD1):c.768-2A>G
NM_000036.3(AMPD1):c.769A>C (p.Lys257Gln) rs750114853
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.773C>T (p.Thr258Ile) rs1161639285
NM_000036.3(AMPD1):c.779C>T (p.Thr260Ile)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro)
NM_000036.3(AMPD1):c.79T>C (p.Ser27Pro)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.829C>T (p.Leu277Phe) rs2101715947
NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu) rs145030449
NM_000036.3(AMPD1):c.857T>A (p.Leu286Gln) rs2101715885
NM_000036.3(AMPD1):c.864C>T (p.Asn288=) rs982156348
NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter)
NM_000036.3(AMPD1):c.897+16G>A
NM_000036.3(AMPD1):c.897+19C>T
NM_000036.3(AMPD1):c.898-14G>A rs1452349780
NM_000036.3(AMPD1):c.898-18C>A
NM_000036.3(AMPD1):c.898-9T>C
NM_000036.3(AMPD1):c.89A>T (p.Lys30Ile)
NM_000036.3(AMPD1):c.905C>T (p.Thr302Ile)
NM_000036.3(AMPD1):c.910A>G (p.Ile304Val)
NM_000036.3(AMPD1):c.918A>G (p.Ala306=)
NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)
NM_000036.3(AMPD1):c.929T>C (p.Met310Thr)
NM_000036.3(AMPD1):c.92A>G (p.Asp31Gly) rs201837665
NM_000036.3(AMPD1):c.92A>T (p.Asp31Val)
NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.951T>C (p.Arg317=)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
NM_000036.3(AMPD1):c.996T>C (p.Tyr332=)
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly)
NM_000036.3(AMPD1):c.9G>A (p.Leu3=) rs2101730055
NM_000384.3(APOB):c.5266A>T (p.Ser1756Cys)
NM_001025389.2(AMPD3):c.*1013GT[11] rs34205084
NM_001025389.2(AMPD3):c.*1181dup rs765400983
NM_001025389.2(AMPD3):c.*121del rs886047589
NM_001025389.2(AMPD3):c.*1297T>C rs886047592
NM_001025389.2(AMPD3):c.*1381C>T rs1207427717
NM_001025389.2(AMPD3):c.*1672TAAA[1] rs752754496
NM_001025389.2(AMPD3):c.*1681T>C rs551737295
NM_001025389.2(AMPD3):c.*603G>A rs1849717914
NM_001025389.2(AMPD3):c.-48_-43del rs547362583
NM_001025389.2(AMPD3):c.-5-6T>G rs540683532
NM_001025389.2(AMPD3):c.-9G>A rs779381507
NM_001025389.2(AMPD3):c.1135-5C>A rs202231572
NM_001025389.2(AMPD3):c.1135-5C>T rs202231572
NM_001025389.2(AMPD3):c.1135-6C>G rs180912663
NM_001025389.2(AMPD3):c.1276C>T (p.Arg426Trp) rs143114453
NM_001025389.2(AMPD3):c.1317G>T (p.Arg439=) rs370322247
NM_001025389.2(AMPD3):c.1388A>T (p.Tyr463Phe) rs766302802
NM_001025389.2(AMPD3):c.1516A>G (p.Asn506Asp) rs886047588
NM_001025389.2(AMPD3):c.1549C>G (p.Leu517Val) rs1849421091
NM_001025389.2(AMPD3):c.1709A>G (p.Asn570Ser) rs1849538120
NM_001025389.2(AMPD3):c.1891A>C (p.Met631Leu) rs1007093143
NM_001025389.2(AMPD3):c.1982C>T (p.Ser661Phe) rs1849617242
NM_001025389.2(AMPD3):c.2101G>T (p.Val701Leu) rs764421503
NM_001025389.2(AMPD3):c.271C>T (p.Pro91Ser) rs201551496
NM_001025389.2(AMPD3):c.325A>G (p.Thr109Ala) rs774974291
NM_001025389.2(AMPD3):c.353C>T (p.Ser118Phe) rs758624728
NM_001025389.2(AMPD3):c.56T>C (p.Leu19Pro) rs1848271993
NM_001025389.2(AMPD3):c.702C>T (p.Asn234=) rs987924771
NM_001025389.2(AMPD3):c.81A>C (p.Lys27Asn) rs933731212
NM_001025389.2(AMPD3):c.931G>A (p.Val311Met) rs117706710
NM_001025389.2(AMPD3):c.981G>T (p.Lys327Asn) rs555477655

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.