ClinVar Miner

List of variants studied for adenosine monophosphate deaminase deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_001025389.2(AMPD3):c.1131C>T (p.His377=) rs76407515 0.01030
NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser) rs75286033 0.01024
NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser) rs144613367 0.00116
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096

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