ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000240.3(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000489.5(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_003688.3(CASK):c.68del (p.Phe23fs) rs1135401762
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775

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