ClinVar Miner

List of variants studied for Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_058004.4(PI4KA):c.2987+38A>G rs2329583 0.48914
NM_058004.4(PI4KA):c.4053-15G>C rs3852979 0.48174
NM_058004.4(PI4KA):c.864C>T (p.Cys288=) rs165854 0.46048
NM_058004.4(PI4KA):c.1005+38_1005+40dup rs362114 0.45949
NM_058004.4(PI4KA):c.5117-12C>T rs1807692 0.44967
NM_058004.4(PI4KA):c.5390+38G>A rs2329478 0.40758
NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=) rs5996654 0.40633
NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=) rs1135929 0.40089
NM_058004.4(PI4KA):c.5676+39C>A rs5996656 0.39972
NM_058004.4(PI4KA):c.5677-37G>A rs5996655 0.39965
NM_058004.4(PI4KA):c.1821-26G>A rs165758 0.39089
NM_058004.4(PI4KA):c.5116+49T>G rs5751800 0.37977
NM_058004.4(PI4KA):c.5677-31A>G rs2629351 0.32228
NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=) rs444310 0.20117
NM_058004.4(PI4KA):c.6174-5C>T rs426917 0.08694
NM_058004.4(PI4KA):c.5391-34A>C rs5760167 0.07286
NM_058004.4(PI4KA):c.2988-12C>T rs5751852 0.06921
NM_058004.4(PI4KA):c.529+29A>G rs73162824 0.03594
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_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_058004.4(PI4KA):c.803G>A (p.Arg268His) rs370921524 0.00003
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter) rs777006911 0.00001
NM_058004.4(PI4KA):c.2575-1G>A rs775166339 0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) rs1351749039 0.00001
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) rs760261849 0.00001
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn) rs747119727 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.2329-14T>A rs73161000
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro) rs1490645147
NM_058004.4(PI4KA):c.2386del (p.Arg796fs) rs1932452329
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs) rs747391554
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) rs1932362121
NM_058004.4(PI4KA):c.274-21A>G rs5760899
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) rs1568988215
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) rs144933467
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter) rs2147287553
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr) rs1929601378
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) rs1925470890
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu) rs2147171210
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser) rs2147164417
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs) rs1419816068
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs) rs139598272
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn) rs752196534
NM_058004.4(PI4KA):c.[1414A>C;355C>T]

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