List of variants in gene PLAA reported as likely pathogenic for neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)
NM_001031689.3(PLAA):c.1800G>A (p.Trp600Ter)
NM_001031689.3(PLAA):c.2350del (p.Lys783_Val784insTer)	rs1587143858
NM_001031689.3(PLAA):c.850_860del (p.Asp284fs)	rs2131392225

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