ClinVar Miner

List of variants studied for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001759.4(CCND2):c.851T>A (p.Val284Glu) rs777786993
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.821A>C (p.Glu274Ala) rs2043752967

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