ClinVar Miner

List of variants reported for X-linked chondrodysplasia punctata 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe) rs145946864 0.00001

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