ClinVar Miner

List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.634G>A (p.Gly212Arg)
NM_000531.6(OTC):c.959G>C (p.Arg320Pro) rs72558474
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) rs1220385043

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