ClinVar Miner

List of variants in gene PIK3R1 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (833):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) rs148059720 0.00019
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile) rs143572224 0.00006
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu) rs377030014 0.00006
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr) rs367923318 0.00004
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) rs774531250 0.00004
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) rs758929943 0.00004
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) rs547196342 0.00004
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile) rs747881833 0.00004
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr) rs771365361 0.00004
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val) rs767837787 0.00003
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) rs112487959 0.00003
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) rs763278796 0.00003
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210 0.00003
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser) rs751595991 0.00002
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His) rs755043940 0.00002
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) rs762818071 0.00002
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val) rs200820769 0.00002
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly) rs1481771249 0.00002
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) rs771919405 0.00002
NM_181523.3(PIK3R1):c.1019+6G>C rs749016701 0.00001
NM_181523.3(PIK3R1):c.1118+5G>A rs773388284 0.00001
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln) rs766524768 0.00001
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln) rs748784250 0.00001
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=) rs935776281 0.00001
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val) rs1747710716 0.00001
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) rs374119964 0.00001
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile) rs755953968 0.00001
NM_181523.3(PIK3R1):c.334+4A>G rs1263122579 0.00001
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) rs752552706 0.00001
NM_181523.3(PIK3R1):c.427+4A>C rs1380740486 0.00001
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile) rs778443805 0.00001
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) rs765008592 0.00001
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln) rs1477562598 0.00001
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser) rs1418066079 0.00001
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val) rs773185995 0.00001
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648 0.00001
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu) rs1486145236 0.00001
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) rs147303522 0.00001
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) rs1184502086 0.00001
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr) rs759526958 0.00001
NM_181523.3(PIK3R1):c.917-4792G>A rs1747126586 0.00001
NM_181523.3(PIK3R1):c.*1del (p.Ter725=) rs1747800027
NM_181523.3(PIK3R1):c.1019+5_1019+7del
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala) rs1017086766
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser)
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro) rs2111964134
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala)
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val)
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=) rs1747501345
NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met)
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile) rs1001616209
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe) rs1001616209
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr) rs188617536
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)
NM_181523.3(PIK3R1):c.1299+4A>G
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly)
NM_181523.3(PIK3R1):c.1380_1397del (p.Ser460_Leu466delinsArg)
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp) rs747844946
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) rs1747587410
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) rs765178503
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His) rs2112270035
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro)
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg) rs1131691859
NM_181523.3(PIK3R1):c.1568+4G>C
NM_181523.3(PIK3R1):c.1569-3C>T rs1747637758
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys)
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly)
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) rs2112275807
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) rs1580173662
NM_181523.3(PIK3R1):c.1745+5G>A rs1747649223
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=) rs1349813143
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)
NM_181523.3(PIK3R1):c.1814+6T>G
NM_181523.3(PIK3R1):c.1815-12C>T
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) rs1747703922
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile) rs1744294827
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) rs1376376979
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) rs1747708267
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
NM_181523.3(PIK3R1):c.1985+3A>G
NM_181523.3(PIK3R1):c.1985+4T>G
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met) rs1747782919
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg) rs1747784886
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) rs1744296159
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) rs1747785071
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val) rs764638492
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr) rs1747786981
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His) rs2112291384
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu) rs910474484
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn) rs1747798069
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter) rs764019194
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) rs772928652
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) rs1744300386
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln) rs765266397
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) rs575423347
NM_181523.3(PIK3R1):c.334+4_334+9del rs1219959578
NM_181523.3(PIK3R1):c.335-15T>G
NM_181523.3(PIK3R1):c.335-3C>T
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val) rs763574306
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe) rs763574306
NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)
NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)
NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)
NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe) rs2112164735
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met) rs539374043
NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu) rs539374043
NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
NM_181523.3(PIK3R1):c.427+6C>G
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) rs755300178
NM_181523.3(PIK3R1):c.502+6T>C rs2112167267
NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro) rs1440086188
NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)
NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)
NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn)
NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr)
NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) rs1264292969
NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe) rs1237204595
NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile)
NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr) rs781181630
NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
NM_181523.3(PIK3R1):c.635-7C>G rs1561289181
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) rs540361957
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter) rs1746792277
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) rs1746792752
NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) rs201598843
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg) rs746719882
NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys) rs141981005
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) rs1746794995
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn) rs2112195478
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His) rs1746797117
NM_181523.3(PIK3R1):c.785G>C (p.Arg262Thr) rs2112195809
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn) rs2112195905
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe) rs2112196013
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser) rs2112196978
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
NM_181523.3(PIK3R1):c.916+18T>G rs2112197494
NM_181523.3(PIK3R1):c.917-14_917-9del rs2112244267
NM_181523.3(PIK3R1):c.917-5T>A
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser) rs1747439245
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) rs1747439770
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser) rs1452312514

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