ClinVar Miner

List of variants in gene PEPD reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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_000285.4(PEPD):c.946G>A (p.Val316Ile)	rs370219399	0.00015
NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser)	rs765974570	0.00006

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