ClinVar Miner

List of variants in gene PI4KA studied for PI4KA-related disorder

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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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_058004.4(PI4KA):c.5137G>C (p.Asp1713His) rs142131375 0.00014
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn) rs368442314 0.00014
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met) rs144363917 0.00013
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.4867T>G (p.Tyr1623Asp) rs776650691 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.1015A>G (p.Ile339Val)
NM_058004.4(PI4KA):c.1062T>C (p.Ser354=)
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) rs1935729656
NM_058004.4(PI4KA):c.1185T>C (p.Phe395=)
NM_058004.4(PI4KA):c.156+5C>G
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter)
NM_058004.4(PI4KA):c.1820+6C>T
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) rs201395198
NM_058004.4(PI4KA):c.2005-4C>T
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys)
NM_058004.4(PI4KA):c.210A>G (p.Leu70=)
NM_058004.4(PI4KA):c.2236C>T (p.Arg746Ter)
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.2421C>T (p.Phe807=)
NM_058004.4(PI4KA):c.24AGGCGG[2] (p.Gly15_Gly18del)
NM_058004.4(PI4KA):c.2575-8C>A
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs) rs747391554
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) rs1932362121
NM_058004.4(PI4KA):c.2708+6C>T
NM_058004.4(PI4KA):c.274-21A>G rs5760899
NM_058004.4(PI4KA):c.274-3dup
NM_058004.4(PI4KA):c.2751del (p.Cys918fs)
NM_058004.4(PI4KA):c.2856G>A (p.Ala952=)
NM_058004.4(PI4KA):c.2970A>G (p.Leu990=)
NM_058004.4(PI4KA):c.2977del (p.Leu993fs)
NM_058004.4(PI4KA):c.2987+8C>T
NM_058004.4(PI4KA):c.3009C>T (p.Ser1003=)
NM_058004.4(PI4KA):c.3033G>A (p.Leu1011=) rs11552980
NM_058004.4(PI4KA):c.3033G>C (p.Leu1011=) rs11552980
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) rs1568988215
NM_058004.4(PI4KA):c.3126G>A (p.Thr1042=)
NM_058004.4(PI4KA):c.3153+8C>T
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) rs144933467
NM_058004.4(PI4KA):c.3294G>A (p.Thr1098=)
NM_058004.4(PI4KA):c.3372G>A (p.Gln1124=)
NM_058004.4(PI4KA):c.3378C>T (p.Ser1126=)
NM_058004.4(PI4KA):c.351A>G (p.Thr117=)
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.3757G>A (p.Ala1253Thr)
NM_058004.4(PI4KA):c.3868C>G (p.Pro1290Ala)
NM_058004.4(PI4KA):c.3918dup (p.Glu1307Ter)
NM_058004.4(PI4KA):c.3976C>T (p.Arg1326Cys)
NM_058004.4(PI4KA):c.405G>A (p.Leu135=)
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
NM_058004.4(PI4KA):c.4539G>A (p.Pro1513=)
NM_058004.4(PI4KA):c.4682+10C>T
NM_058004.4(PI4KA):c.4773+6G>A
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
NM_058004.4(PI4KA):c.4995+3A>G
NM_058004.4(PI4KA):c.5031G>A (p.Ala1677=)
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile) rs2147194890
NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del) rs1925715512
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) rs1925470890
NM_058004.4(PI4KA):c.5653C>T (p.Arg1885Cys)
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu) rs2147171210
NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter) rs767451281
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.6142T>A (p.Cys2048Ser)
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs) rs139598272
NM_058004.4(PI4KA):c.712del (p.Leu238fs)
NM_058004.4(PI4KA):c.735C>A (p.Val245=)
NM_058004.4(PI4KA):c.786T>C (p.Ser262=)
NM_058004.4(PI4KA):c.789+9G>A
NM_058004.4(PI4KA):c.870C>T (p.Pro290=)
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn) rs752196534
NM_058004.4(PI4KA):c.984G>A (p.Met328Ile)
NM_058004.4(PI4KA):c.9G>C (p.Ala3=)
NM_058004.4(PI4KA):c.[1414A>C;355C>T]

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