ClinVar Miner

List of variants reported for Lissencephaly with decussation defect by Dobyns Lab, Seattle Children's Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr) rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly) rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe) rs1557670520
NM_012090.5(MACF1):c.10617+444_15577-288del

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