ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_014140.3(SMARCAL1):c.1064C>T (p.Ala355Val)
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514

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