ClinVar Miner

List of variants studied for intellectual developmental disorder with autism and macrocephaly by MGZ Medical Genetics Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.1899+5G>A rs1555316496 0.00001
NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966

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