ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456
NR_023343.1(RNU4ATAC):n.48G>A rs863225422

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