ClinVar Miner

List of variants studied for X-linked chondrodysplasia punctata 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739

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