ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.3427G>A (p.Ala1143Thr) rs2047169812
NM_001184727.2(GPRASP1):c.3106C>T (p.Pro1036Ser) rs1569484943
NM_001184727.2(GPRASP1):c.3754C>A (p.Pro1252Thr) rs1569485074
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_003966.3(SEMA5A):c.741C>A (p.Phe247Leu)
NM_014927.5(CNKSR2):c.128A>G (p.Gln43Arg)
NM_018489.3(ASH1L):c.7408C>T (p.Pro2470Ser) rs2148343408

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