ClinVar Miner

List of variants reported for Global developmental delay; Seizure; Intellectual disability by Institute for Human Genetics, University Hospital Essen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly) rs781200968 0.00001
NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu) rs2100847449
NM_015557.3(CHD5):c.4079-3C>G rs1434726192
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) rs371488822
NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val) rs2100842233

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