ClinVar Miner

List of variants reported as likely benign for Ornithine carbamoyltransferase deficiency by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.867+1136C>A rs7050531 0.00723
NM_000531.6(OTC):c.540+296G>C rs746940552 0.00548
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059 0.00013
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740 0.00012
NM_000531.6(OTC):c.675G>A (p.Pro225=) rs376129619 0.00009
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935 0.00005
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000531.6(OTC):c.375G>A (p.Thr125=) rs371075231 0.00002
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866

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