ClinVar Miner

List of variants reported as pathogenic for X-linked chondrodysplasia punctata 1 by Invitae

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Total variants: 3

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HGVS	dbSNP
NC_000023.11:g.(?_2934812)_(2958455_?)del	rs0
NC_000023.11:g.(?_2934812)_(2960420_?)del	rs0
NM_000047.3(ARSL):c.1158del (p.Ile387fs)	rs0

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