ClinVar Miner

List of variants reported for Intellectual disability by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys) rs1554402092
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys) rs1554386687
NM_001220.5(CAMK2B):c.820-1G>A rs1554385305
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_015981.4(CAMK2A):c.1237+1G>A rs113331868
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser) rs1554122526
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) rs1287121256
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) rs1554122129
NM_015981.4(CAMK2A):c.598+2dup rs1554122123
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu) rs926027867
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) rs1554121875
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) rs1554121872
NM_171825.2(CAMK2A):c.65del rs1554123982

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