ClinVar Miner

List of variants studied for X-linked disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met) rs199639961 0.00009
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)

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