ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Intellectual disability

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Total variants: 6
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HGVS dbSNP
NM_001039803.2(CDK20):c.610T>C (p.Phe204Leu) rs745561217
NM_001105214.2(ASH2L):c.1444A>G (p.Ile482Val) rs1060499744
NM_001408.2(CELSR2):c.3830C>T (p.Pro1277Leu) rs561330579
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738
NM_024548.3(CEP97):c.1148A>G (p.His383Arg) rs1060499739
NM_031448.4(C19orf12):c.161G>T (p.Gly54Val) rs752450983

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