ClinVar Miner

List of variants reported as benign for 5-Oxoprolinase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017570.5(OPLAH):c.3721-20del	rs148937107	0.03336
NM_017570.5(OPLAH):c.402G>A (p.Leu134=)	rs200748510	0.00423
NM_017570.5(OPLAH):c.3721-11dup	rs782568024

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