ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Molecular Diagnostics Laboratory,M Health: University of Minnesota

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177

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