ClinVar Miner

List of variants reported as pathogenic for Deficiency of pyrroline-5-carboxylate reductase

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Total variants: 4
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NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707

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