List of variants reported as likely pathogenic for Intellectual disability, autosomal recessive 3

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_017721.5(CC2D1A):c.61-2A>G	rs200450636	0.00006
NM_017721.5(CC2D1A):c.511_513+1del	rs777057767	0.00001
NM_017721.5(CC2D1A):c.1061dup (p.Arg355fs)	rs2513094283
NM_017721.5(CC2D1A):c.1117_1121dup (p.Lys374fs)
NM_017721.5(CC2D1A):c.1403C>G (p.Ser468Ter)
NM_017721.5(CC2D1A):c.1468+1G>C
NM_017721.5(CC2D1A):c.1528C>T (p.Arg510Ter)
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs)	rs1971392241
NM_017721.5(CC2D1A):c.179_180insCA (p.Glu60fs)	rs1970938126
NM_017721.5(CC2D1A):c.2710+1G>A	rs2513147217
NM_017721.5(CC2D1A):c.2711-2A>G	rs2513150660
NM_017721.5(CC2D1A):c.959dup (p.Asp321fs)

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