ClinVar Miner

List of variants studied for chondrodysplasia punctata by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (20):

Child syndrome
Child syndrome; CK syndrome
Chondrodysplasia punctata 2 X-linked dominant
Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome
Chondrodysplasia punctata, brachytelephalangic, autosomal
Fatty acyl-CoA reductase 1 deficiency
Fatty acyl-CoA reductase 1 deficiency; CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
Greenberg dysplasia
Greenberg dysplasia; Regressive spondylometaphyseal dysplasia
Keutel syndrome
Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5
Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata type 5
X-linked chondrodysplasia punctata 1

Minimum submission review status:		Collection method:
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)	rs142375403	0.00129
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	rs146567534	0.00047

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