ClinVar Miner

List of variants in gene OPLAH reported as pathogenic for 5-oxoprolinase deficiency

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs) rs782750497 0.00006
NM_017570.5(OPLAH):c.2557C>T (p.Arg853Ter) rs543486699 0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter) rs782331682 0.00001
NM_017570.5(OPLAH):c.587+1G>A rs1272869557 0.00001
NM_017570.5(OPLAH):c.1652del (p.Leu551fs)
NM_017570.5(OPLAH):c.206_251dup (p.Thr85fs)
NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter) rs781977956
NM_017570.5(OPLAH):c.2362dup (p.His788fs)
NM_017570.5(OPLAH):c.2608dup (p.His870fs) rs781956288
NM_017570.5(OPLAH):c.2669del (p.Gly890fs)
NM_017570.5(OPLAH):c.2677C>T (p.Gln893Ter)
NM_017570.5(OPLAH):c.2987dup (p.Arg997fs) rs781818673
NM_017570.5(OPLAH):c.3249_3250delinsTT (p.Gln1084Ter)
NM_017570.5(OPLAH):c.3612C>G (p.Tyr1204Ter)
NM_017570.5(OPLAH):c.493C>T (p.Gln165Ter) rs1835598414
NM_017570.5(OPLAH):c.969C>A (p.Ser323Arg) rs398122906

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