ClinVar Miner

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

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
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.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_032335.3(PHF6):c.65C>A (p.Ser22Ter) rs1569334260

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