ClinVar Miner

List of variants reported as likely pathogenic for Intellectual functioning disability

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Total variants: 7
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HGVS dbSNP
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser) rs1555050158
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly) rs1555050171
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val) rs1555050174
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) rs765556214
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr) rs1555661648
NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr) rs1555455456

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