ClinVar Miner

List of variants in gene AMPD3 reported as likely benign for adenosine monophosphate deaminase deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000480.3(AMPD3):c.*1013_*1014GT[11] rs34205084
NM_000480.3(AMPD3):c.*1070A>G rs7416
NM_000480.3(AMPD3):c.1716T>C (p.Tyr572=) rs3741041
NM_000480.3(AMPD3):c.22+4099A>G rs899013
NM_000480.3(AMPD3):c.22+4108C>T rs2071019
NM_000480.3(AMPD3):c.22+4308T>C rs899011
NM_000480.3(AMPD3):c.22+4323G>T rs28403593
NM_000480.3(AMPD3):c.22+4329T>G rs58115104
NM_000480.3(AMPD3):c.580C>T (p.Arg194Trp) rs11042836
NM_000480.3(AMPD3):c.600G>A (p.Pro200=) rs16907852

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