ClinVar Miner

List of variants reported as benign for pseudoachondroplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):

Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1755G>A (p.Thr585=)	rs34467947	0.04927
NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	rs115338183	0.01840

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