ClinVar Miner

List of variants studied for Deficiency of pyrroline-5-carboxylate reductase by OMIM

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Total variants: 3

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HGVS	dbSNP
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

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