ClinVar Miner

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

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Total variants: 8
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NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) rs0
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs0
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.898G>A (p.Val300Ile) rs752354785

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