List of variants reported as likely pathogenic for Intellectual disability, autosomal dominant 45

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001386298.1(CIC):c.1026dup (p.Trp343fs)	rs2513599364
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)	rs2513590118
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)	rs2147018633
NM_001386298.1(CIC):c.1631del (p.Gly544fs)	rs2513605675
NM_001386298.1(CIC):c.2363del (p.Pro788fs)	rs2513612309
NM_001386298.1(CIC):c.2680_2692del (p.Gln894fs)
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp)	rs1568504941
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)	rs2037753806
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)	rs2513839203
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter)	rs747706524
NM_001386298.1(CIC):c.4869del (p.Ser1624fs)	rs2513951852
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)	rs2513973253
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)	rs2147280018
NM_001386298.1(CIC):c.5903-1G>A
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)	rs2147310210
NM_001386298.1(CIC):c.6344del (p.Gln2115fs)	rs2147320674
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)	rs752780532

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