List of variants in gene PI4KA reported as likely pathogenic for Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)	rs1351749039	0.00001
NM_058004.4(PI4KA):c.2386del (p.Arg796fs)	rs1932452329
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser)	rs2147164417
NM_058004.4(PI4KA):c.[1414A>C;355C>T]

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