ClinVar Miner

List of variants reported as pathogenic for Lissencephaly 10 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) rs1774229245
NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr) rs1774228957
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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