ClinVar Miner

List of variants in gene combination NPHP3-ACAD11, UBA5 reported as pathogenic by Undiagnosed Diseases Network, NIH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)	rs1553770577

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