ClinVar Miner

List of variants reported as uncertain significance for rhizomelic chondrodysplasia punctata by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (8):

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_001351132.2(PEX5):c.230G>A (p.Arg77His)	rs780957318	0.00006
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	rs749729761

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