ClinVar Miner

List of variants reported as uncertain significance for Erythrocyte AMP deaminase deficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001025389.2(AMPD3):c.*287T>C rs76318574 0.01748
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.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.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.*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

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