List of variants reported as pathogenic for neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001031689.3(PLAA):c.1049A>T (p.Glu350Val)	rs1824723269
NM_001031689.3(PLAA):c.2254C>T (p.Leu752Phe)	rs1114167457
NM_001031689.3(PLAA):c.68G>T (p.Gly23Val)	rs747956857
NM_001031689.3(PLAA):c.68dup (p.Leu24fs)	rs1554662408
NM_001031689.3(PLAA):c.829T>C (p.Cys277Arg)	rs1824935807

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