ClinVar Miner

List of variants reported as likely pathogenic for ATR-X-related syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839

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