ClinVar Miner

List of variants reported as uncertain significance for Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) rs113882528 0.00176
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) rs113584704 0.00175
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val) rs142927362 0.00026
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) rs185657767 0.00019
NM_058004.4(PI4KA):c.803G>A (p.Arg268His) rs370921524 0.00003
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) rs760261849 0.00001
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) rs1935729656
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys)
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) rs1932362121
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) rs1568988215
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) rs1925470890
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn) rs752196534

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