ClinVar Miner

List of variants reported as likely benign for beta-ureidopropionase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016327.3(UPB1):c.873+9C>T rs111674727 0.01060
NM_016327.3(UPB1):c.957G>A (p.Val319=) rs62231899 0.00726
NM_016327.3(UPB1):c.1107C>T (p.Leu369=) rs138691259 0.00658
NM_016327.3(UPB1):c.-63C>T rs116629687 0.00486
NM_016327.3(UPB1):c.82G>A (p.Val28Ile) rs141896929 0.00229
NM_016327.3(UPB1):c.*356G>A rs111642761 0.00214
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_016327.3(UPB1):c.-7C>G rs200677387
NM_016327.3(UPB1):c.47A>C (p.His16Pro) rs199934207

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