ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability-hypotonia-movement disorder syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.103+6T>G rs2147340616
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro) rs796052232
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro) rs2063923789
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527

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