ClinVar Miner

List of variants reported as likely benign for Deficiency of pyrroline-5-carboxylate reductase by Invitae

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Total variants: 6
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NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=) rs768297819
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr) rs150762865
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183

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