ClinVar Miner

List of variants in gene combination EEF1A2, LOC132090595 reported as likely benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.399G>A (p.Thr133=) rs146240185 0.00004
NM_001958.5(EEF1A2):c.513C>A (p.Val171=) rs201149992 0.00004
NM_001958.5(EEF1A2):c.504C>T (p.Asp168=) rs757395064 0.00003
NM_001958.5(EEF1A2):c.543C>T (p.Ile181=) rs1057115359 0.00003
NM_001958.5(EEF1A2):c.477G>A (p.Glu159=) rs768282017 0.00002
NM_001958.5(EEF1A2):c.412C>T (p.Leu138=) rs900745409 0.00001
NM_001958.5(EEF1A2):c.426G>A (p.Thr142=) rs751391189 0.00001
NM_001958.5(EEF1A2):c.447C>T (p.Ile149=) rs772964838 0.00001
NM_001958.5(EEF1A2):c.459C>T (p.Asn153=) rs761190222 0.00001
NM_001958.5(EEF1A2):c.489C>T (p.Ser163=) rs138632721 0.00001
NM_001958.5(EEF1A2):c.501C>T (p.Tyr167=) rs773761730 0.00001
NM_001958.5(EEF1A2):c.510C>T (p.Ile170=) rs1425598851 0.00001
NM_001958.5(EEF1A2):c.398C>T (p.Thr133Met) rs1555883816
NM_001958.5(EEF1A2):c.426G>T (p.Thr142=)
NM_001958.5(EEF1A2):c.444C>T (p.Leu148=)
NM_001958.5(EEF1A2):c.447C>A (p.Ile149=)
NM_001958.5(EEF1A2):c.468C>T (p.Asp156=)
NM_001958.5(EEF1A2):c.471C>G (p.Ser157=) rs1600907789
NM_001958.5(EEF1A2):c.513C>T (p.Val171=) rs201149992
NM_001958.5(EEF1A2):c.522C>T (p.Val174=)
NM_001958.5(EEF1A2):c.525C>T (p.Ser175=)
NM_001958.5(EEF1A2):c.549C>T (p.Tyr183=) rs2145944762
NM_001958.5(EEF1A2):c.555G>A (p.Pro185=)

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