ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu)	rs142382411
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys)	rs1555909467
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)	rs0

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