ClinVar Miner

List of variants reported as likely benign for hyperprolinemia type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.-4C>A rs9426797 0.03554
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609 0.02500
NM_003748.4(ALDH4A1):c.*35C>T rs2230710 0.02193
NM_003748.4(ALDH4A1):c.-7A>G rs9426679 0.02115
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141 0.01815
NM_003748.4(ALDH4A1):c.603+14G>A rs79637190 0.01743
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172 0.01344
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_003748.4(ALDH4A1):c.*903C>T rs148846466 0.01203
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434 0.00992
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237 0.00952
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410

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