ClinVar Miner

List of variants reported as likely benign for Schimke immunoosseous dysplasia by Illumina Clinical Services Laboratory,Illumina

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Total variants: 9
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HGVS dbSNP
NM_014140.3(SMARCAL1):c.-137A>G rs115172989
NM_014140.3(SMARCAL1):c.-200G>A rs79352134
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His) rs11555797
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513

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