ClinVar Miner

List of variants reported for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005027.4(PIK3R2):c.1360C>T (p.Gln454Ter)
NM_014795.4(ZEB2):c.1858A>G (p.Ile620Val)	rs760782001

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