ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498

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