ClinVar Miner

List of variants studied for inborn disorder of ornithine metabolism by Sharon lab, Hadassah-Hebrew University Medical Center

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.900+1G>A rs1589700702

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