ClinVar Miner

List of variants reported as pathogenic for Global developmental delay; Motor delay; Short stature; Failure to thrive; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Exotropia; Vesicoureteral reflux; Microcephaly; Thrombocytopenia by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
46;X;inv(X)(p11.4q24)dn

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