List of variants in gene CIC reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001386298.1(CIC):c.1026dup (p.Trp343fs)
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)	rs2147018633
NM_001386298.1(CIC):c.1631del (p.Gly544fs)
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)	rs2037753806
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter)	rs747706524
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)	rs752780532
NM_015125.5(CIC):c.3617del (p.Gln1206fs)	rs2147320674

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