ClinVar Miner

List of variants reported as uncertain significance for Mental retardation, X-linked, syndromic, Turner type

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Total variants: 15
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HGVS dbSNP
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala)
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His)
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala)
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala)
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) rs781793405
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys)

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