ClinVar Miner

List of variants reported as likely pathogenic for Posterior Predominant Lissencephaly by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001042475.3(CEP85L):c.172A>T (p.Ser58Cys) rs1774230502
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) rs1774229245
NM_001042475.3(CEP85L):c.1A>T (p.Met1Leu) rs1775537638
NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr) rs1774228957
NM_001042475.3(CEP85L):c.205G>A (p.Gly69Arg) rs1774228815
NM_001042475.3(CEP85L):c.232+1G>T rs1774227158
NM_001042475.3(CEP85L):c.232+3G>T rs754052089
NM_001042475.3(CEP85L):c.232+5G>A rs1774226763
NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr) rs1775537467

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