ClinVar Miner

List of variants reported as uncertain significance for intellectual developmental disorder with autism and macrocephaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) rs1888694098
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) rs1887663294

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