ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg) rs778445616 0.00014
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) rs1653241392
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly) rs1553130904
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu) rs1671446564
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs) rs2108202536
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg) rs2055786277
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014927.5(CNKSR2):c.228+1G>A

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