ClinVar Miner

List of variants studied for pseudoachondroplasia by Juno Genomics, Hangzhou Juno Genomics, Inc

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1195G>A (p.Asp399Asn)	rs1555791490
NM_000095.3(COMP):c.1520A>C (p.Asp507Ala)
NM_000095.3(COMP):c.1526A>C (p.Asp509Ala)

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