ClinVar Miner

List of variants reported as likely pathogenic for Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination

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Total variants: 2
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HGVS dbSNP
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter) rs1057518782
NM_020533.3(MCOLN1):c.777+1G>C rs1057518781

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