ClinVar Miner

List of variants studied for Schimke immunoosseous dysplasia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP
NM_014140.3(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514

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