ClinVar Miner

List of variants reported as uncertain significance for intellectual disability, autosomal dominant 1 by Mendelics

Included ClinVar conditions (1):

Intellectual disability, autosomal dominant 1

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys)	rs1448983984
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val)	rs1574476665
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln)	rs1296916399

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