ClinVar Miner

List of variants reported as benign for Deficiency of pyrroline-5-carboxylate reductase by Illumina Clinical Services Laboratory,Illumina

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Total variants: 19
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HGVS dbSNP
NM_003748.4(ALDH4A1):c.*118G>A rs11740
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333
NM_003748.4(ALDH4A1):c.*444T>C rs9117
NM_003748.4(ALDH4A1):c.*502A>G rs1802783
NM_003748.4(ALDH4A1):c.*702C>T rs3202002
NM_003748.4(ALDH4A1):c.*712C>T rs14311
NM_003748.4(ALDH4A1):c.*763T>C rs1138267
NM_003748.4(ALDH4A1):c.*921G>A rs1138269
NM_003748.4(ALDH4A1):c.*925C>T rs1140477
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348

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