ClinVar Miner

List of variants reported as uncertain significance for Schimke immuno-osseous dysplasia by Baylor Genetics

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His)	rs1172616375	0.00001
NM_014140.4(SMARCAL1):c.755T>C (p.Ile252Thr)	rs1693575527

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