List of variants in gene VPS4A reported as pathogenic for cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

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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_013245.3(VPS4A):c.608G>A (p.Gly203Glu)	rs1965484288
NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)	rs1965484443
NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)	rs1965499910
NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)	rs1965499910

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