List of variants studied for Intellectual disability, autosomal dominant 45 by MVZ Medizinische Genetik Mainz

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001386298.1(CIC):c.1358G>A (p.Arg453His)	rs957357580	0.00001
NM_001386298.1(CIC):c.1495G>A (p.Gly499Ser)	rs2513604960
NM_001386298.1(CIC):c.2322_2323del (p.Arg775fs)	rs1568487734
NM_001386298.1(CIC):c.2363del (p.Pro788fs)	rs2513612309
NM_001386298.1(CIC):c.2935C>T (p.Gln979Ter)	rs2513800857
NM_001386298.1(CIC):c.446G>T (p.Gly149Val)
NM_001386298.1(CIC):c.4869del (p.Ser1624fs)	rs2513951852
NM_001386298.1(CIC):c.638_640del (p.Asp213del)
NM_001386298.1(CIC):c.94C>T (p.Arg32Ter)	rs2513589983

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