ClinVar Miner

List of variants reported as pathogenic for X-linked disease by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000133.3(F9):c.*1157A>G
NM_000133.3(F9):c.1009G>A (p.Ala337Thr)
NM_000133.3(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.3(F9):c.407T>C (p.Ile136Thr)
NM_000133.3(F9):c.521-35_723+84del
NM_000133.3(F9):c.572G>A (p.Arg191His) rs137852238
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.3(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.3(F9):c.88G>C (p.Val30Leu)

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