ClinVar Miner

List of variants studied for X-linked intellectual disability, Cantagrel type by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs) rs2080113065
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs) rs2080111520
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter) rs1181632862

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