ClinVar Miner

List of variants reported as uncertain significance for acromesomelic dysplasia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (14):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp)	rs2149325883
NM_003995.4(NPR2):c.2411G>A (p.Arg804His)	rs2132092435

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