ClinVar Miner

List of variants studied for Erythrocyte AMP deaminase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
Download table as spreadsheet
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_001025389.1(AMPD3):c.-303C>T rs2071019 0.06605
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
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_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_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_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_001025389.2(AMPD3):c.1569T>G (p.Phe523Leu) rs146000615 0.00157
NM_001025389.2(AMPD3):c.-25C>T rs576679601 0.00150
NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser) rs144613367 0.00116
NM_001025389.1(AMPD3):c.-200G>A rs180772894 0.00108
NM_001025389.2(AMPD3):c.1080C>T (p.Asp360=) rs139511483 0.00081
NM_001025389.2(AMPD3):c.974A>G (p.Asn325Ser) rs147246880 0.00075
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_001025389.2(AMPD3):c.1445C>T (p.Ser482Leu) rs144107914 0.00049
NM_001025389.2(AMPD3):c.885C>T (p.Ser295=) rs149271802 0.00048
NM_001025389.2(AMPD3):c.1771G>A (p.Gly591Ser) rs142086203 0.00042
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_001025389.2(AMPD3):c.1513A>G (p.Ile505Val) rs141457480 0.00026
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_001025389.2(AMPD3):c.1016C>T (p.Thr339Met) rs201115705 0.00019
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.1739C>T (p.Thr580Met) rs750830023 0.00013
NM_001025389.2(AMPD3):c.1729G>A (p.Gly577Ser) rs769751034 0.00011
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_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040 0.00008
NM_001025389.2(AMPD3):c.991C>T (p.Arg331Cys) rs758038726 0.00008
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_001025389.2(AMPD3):c.*771C>T rs746976193 0.00005
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_001025389.2(AMPD3):c.1267-13C>A rs376493129 0.00003
NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln) rs886047586 0.00003
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_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
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.1815_1816del (p.Ile606fs)
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.