ClinVar Miner

List of variants reported as uncertain significance for intellectual disability, autosomal dominant 40 by Baylor Genetics

Included ClinVar conditions (1):

Intellectual disability, autosomal dominant 40

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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_032436.4(CHAMP1):c.1351C>T (p.Leu451Phe)	rs2087229717
NM_032436.4(CHAMP1):c.475C>T (p.Pro159Ser)	rs2087209947
NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu)	rs1555379590

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