ClinVar Miner

List of variants reported as benign for Schimke immuno-osseous dysplasia by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (1):

Schimke immuno-osseous dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala)	rs146084305	0.00795

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