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

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Total variants: 6

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HGVS	dbSNP
NM_000047.2(ARSL):c.119T>G (p.Ile40Ser)	rs80338710
NM_000047.2(ARSL):c.1442C>T (p.Thr481Met)	rs80338713
NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser)	rs28935474
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala)	rs80338711
NM_000047.2(ARSL):c.410G>T (p.Gly137Val)	rs80338711

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