ClinVar Miner

List of variants reported for Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome by GenomeConnect - Brain Gene Registry

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1673_1675delinsTT (p.Ser558fs) rs2142867004
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.532_538del (p.Leu178fs)
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) rs2052063931

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