ClinVar Miner

List of variants reported as pathogenic for 3M syndrome 2 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	rs752401295
NM_015311.3(OBSL1):c.[1273dup];[35dup]

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