List of variants reported as pathogenic for syndromic intellectual disability by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	rs606231193
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)	rs886128077
NM_004380.3(CREBBP):c.3779+1G>A	rs587783483
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)	rs587783507
NM_007118.4(TRIO):c.4231C>T (p.Arg1411Ter)

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