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):
Minimum submission review status: Collection method:
Minimum conflict level:
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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