ClinVar Miner

List of variants reported as pathogenic for Schimke immuno-osseous dysplasia by Istanbul Faculty of Medicine, Istanbul University

Included ClinVar conditions (1):

Schimke immuno-osseous dysplasia

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Minimum conflict level: Report conflict between different conditions
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
NM_014140.4(SMARCAL1):c.1027_1034del (p.Phe343fs)	rs2106020733

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