ClinVar Miner

List of variants in gene AMPD3 reported as likely benign for Erythrocyte AMP deaminase deficiency

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_001025389.2(AMPD3):c.669C>T (p.His223=) rs34319136 0.02210
NM_001025389.2(AMPD3):c.1674C>T (p.Tyr558=) rs114718879 0.01986
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.960G>A (p.Ala320=) rs75283041 0.00523
NM_001025389.2(AMPD3):c.*1013GT[11] rs34205084

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