ClinVar Miner

List of variants in gene PIK3CA reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=) rs1131681 0.00022
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=) rs200568210 0.00012
NM_006218.4(PIK3CA):c.225A>G (p.Gln75=) rs202176973 0.00009
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379 0.00004
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=) rs201815216 0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750 0.00002
NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=) rs375577477 0.00001
NM_006218.4(PIK3CA):c.1458C>T (p.Phe486=) rs201775914 0.00001
NM_006218.4(PIK3CA):c.2937-3T>C rs760056670 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg) rs1576935161
NM_006218.4(PIK3CA):c.1221C>T (p.Cys407=)
NM_006218.4(PIK3CA):c.1244C>T (p.Ala415Val) rs1576938120
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.148T>C (p.Phe50Leu) rs1064797300
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.174C>T (p.Leu58=) rs2108385691
NM_006218.4(PIK3CA):c.1795A>G (p.Met599Val)
NM_006218.4(PIK3CA):c.1809C>T (p.Asp603=) rs558223824
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2382T>A (p.Phe794Leu) rs2108418129
NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=) rs2108422421
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3091A>G (p.Thr1031Ala)
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3172A>C (p.Ile1058Leu) rs1576950003
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.519T>C (p.Ser173=) rs1576932506
NM_006218.4(PIK3CA):c.714A>G (p.Gln238=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.