ClinVar Miner

List of variants reported as benign for adenosine monophosphate deaminase deficiency by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
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_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.99A>G (p.Gly33=) rs61752480 0.00310
NM_000036.3(AMPD1):c.1224+7C>T rs191152112 0.00139
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) rs138993729 0.00079
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) rs140181682 0.00053
NM_000036.3(AMPD1):c.195C>T (p.Ser65=) rs150208948 0.00044
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000036.3(AMPD1):c.681T>C (p.Asp227=) rs201988963 0.00014
NM_000036.3(AMPD1):c.1806C>T (p.Pro602=) rs148515775
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) rs61738827
NM_000036.3(AMPD1):c.309T>A (p.Ile103=) rs398123115
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.768-11A>G

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