ClinVar Miner

List of variants in gene AMPD1 reported as uncertain significance for adenosine monophosphate deaminase deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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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)

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