List of variants reported as pathogenic for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
NC_000001.10:g.(?_243652296)_(243859038_?)del
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)	rs587776935
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)	rs397514606
NM_005465.7(AKT3):c.538A>G (p.Lys180Glu)	rs2147812145
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser)	rs397514605
NM_005465.7(AKT3):c.963T>G (p.Asn321Lys)	rs1673171921
Single allele

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