ClinVar Miner

List of variants in gene ARSL reported as pathogenic for X-linked chondrodysplasia punctata 1

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Gene type:
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Total variants: 14
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NC_000023.11:g.(?_2934812)_(2958455_?)del rs0
NC_000023.11:g.(?_2934812)_(2960420_?)del rs0
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.1475G>A (p.Cys492Tyr) rs122460155
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.332G>C (p.Arg111Pro) rs122460153
NM_000047.2(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) rs80338711
NM_000047.2(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.2(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.3(ARSL):c.1158del (p.Ile387fs) rs0

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