ClinVar Miner

List of variants studied for hyperprolinemia type 2 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314 0.00007
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510

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