ClinVar Miner

List of variants studied for X-linked chondrodysplasia punctata by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) rs41310272

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