ClinVar Miner

List of variants reported as uncertain significance for adenosine monophosphate deaminase deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 68
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HGVS dbSNP
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.1157A>C (p.Tyr386Ser)
NM_000036.2(AMPD1):c.1323+8G>A rs140176911
NM_000036.2(AMPD1):c.133+8T>C rs886045096
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys) rs587779370
NM_000036.2(AMPD1):c.1563G>A (p.Glu521=) rs80266556
NM_000036.2(AMPD1):c.1572C>T (p.Ile524=) rs145557954
NM_000036.2(AMPD1):c.1669T>A (p.Ser557Thr) rs140181682
NM_000036.2(AMPD1):c.1750A>T (p.Asn584Tyr) rs886045095
NM_000036.2(AMPD1):c.1820G>A (p.Gly607Glu) rs150645738
NM_000036.2(AMPD1):c.1944C>T (p.Ile648=) rs34257411
NM_000036.2(AMPD1):c.2025A>G (p.Leu675=) rs886045094
NM_000036.2(AMPD1):c.202C>T (p.Arg68Cys) rs139512772
NM_000036.2(AMPD1):c.2246G>A (p.Arg749Gln) rs886045093
NM_000036.2(AMPD1):c.2281C>T (p.Arg761Cys) rs777802711
NM_000036.2(AMPD1):c.294C>T (p.Ser98=) rs150208948
NM_000036.2(AMPD1):c.322C>T (p.Arg108Cys) rs12566550
NM_000036.2(AMPD1):c.323G>A (p.Arg108His) rs61738827
NM_000036.2(AMPD1):c.481-17dup rs727503806
NM_000036.2(AMPD1):c.481-6del rs727503806
NM_000036.2(AMPD1):c.523C>T (p.Arg175Trp) rs369963978
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000036.2(AMPD1):c.599G>A (p.Arg200Gln) rs368656142
NM_000036.2(AMPD1):c.780T>C (p.Asp260=) rs201988963
NM_000036.2(AMPD1):c.980T>G (p.Phe327Cys)
NM_000480.3(AMPD3):c.*1181dup rs765400983
NM_000480.3(AMPD3):c.*121del rs886047589
NM_000480.3(AMPD3):c.*1297T>C rs886047592
NM_000480.3(AMPD3):c.*1536T>C rs866636048
NM_000480.3(AMPD3):c.*1672_*1675TAAA[1] rs752754496
NM_000480.3(AMPD3):c.*1681T>C rs551737295
NM_000480.3(AMPD3):c.*287T>C rs76318574
NM_000480.3(AMPD3):c.*431A>G rs751822472
NM_000480.3(AMPD3):c.*845A>G rs529360394
NM_000480.3(AMPD3):c.1008G>T (p.Lys336Asn) rs555477655
NM_000480.3(AMPD3):c.1107C>T (p.Asp369=) rs139511483
NM_000480.3(AMPD3):c.1114C>T (p.His372Tyr) rs886047587
NM_000480.3(AMPD3):c.1158C>T (p.His386=) rs76407515
NM_000480.3(AMPD3):c.1285A>G (p.Met429Val) rs184691110
NM_000480.3(AMPD3):c.1294-13C>A rs376493129
NM_000480.3(AMPD3):c.1294-3C>T rs369778695
NM_000480.3(AMPD3):c.1415A>T (p.Tyr472Phe) rs766302802
NM_000480.3(AMPD3):c.1479G>A (p.Lys493=) rs371018918
NM_000480.3(AMPD3):c.1540A>G (p.Ile514Val) rs141457480
NM_000480.3(AMPD3):c.1543A>G (p.Asn515Asp) rs886047588
NM_000480.3(AMPD3):c.1627G>A (p.Asp543Asn) rs750200570
NM_000480.3(AMPD3):c.1755C>T (p.Arg585=) rs150947905
NM_000480.3(AMPD3):c.22+4171A>G rs886047584
NM_000480.3(AMPD3):c.22+4211G>A rs180772894
NM_000480.3(AMPD3):c.22+4363_22+4368del rs547362583
NM_000480.3(AMPD3):c.23-6T>G rs540683532
NM_000480.3(AMPD3):c.2316C>T (p.Thr772=) rs138270366
NM_000480.3(AMPD3):c.298C>T (p.Pro100Ser) rs201551496
NM_000480.3(AMPD3):c.310G>A (p.Asp104Asn) rs149433198
NM_000480.3(AMPD3):c.352A>G (p.Thr118Ala) rs774974291
NM_000480.3(AMPD3):c.380C>T (p.Ser127Phe) rs758624728
NM_000480.3(AMPD3):c.389C>T (p.Thr130Met) rs780348844
NM_000480.3(AMPD3):c.435C>T (p.Ser145=) rs542609298
NM_000480.3(AMPD3):c.450C>T (p.Ala150=) rs117002871
NM_000480.3(AMPD3):c.453+8G>A rs150321693
NM_000480.3(AMPD3):c.487A>G (p.Ser163Gly) rs756660564
NM_000480.3(AMPD3):c.512G>A (p.Arg171Gln) rs886047586
NM_000480.3(AMPD3):c.527G>T (p.Arg176Leu) rs764108261
NM_000480.3(AMPD3):c.627T>G (p.Pro209=) rs200373616
NM_000480.3(AMPD3):c.696C>T (p.His232=) rs34319136
NM_000480.3(AMPD3):c.912C>T (p.Ser304=) rs149271802
NM_000480.3(AMPD3):c.987G>A (p.Ala329=) rs75283041

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