ClinVar Miner

List of variants studied for Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 by Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital

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Total variants: 2
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NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)

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