ClinVar Miner

List of variants reported as uncertain significance for Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Spastic paraplegia 84, autosomal recessive; Gastrointestinal defects and immunodeficiency syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn)	rs368442314	0.00014

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