ClinVar Miner

List of variants studied for developmental defect during embryogenesis by ClinGen Brain Malformations Variant Curation Expert Panel

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met) rs142403193 0.00036
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351 0.00032
NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr) rs767933385 0.00025
NM_005027.4(PIK3R2):c.320C>T (p.Pro107Leu) rs199683047 0.00021
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_004958.4(MTOR):c.706-18C>A rs778886695 0.00010
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly) rs760280114 0.00008
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=) rs774532039 0.00006
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=) rs201402676 0.00004
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val) rs760415071 0.00002
NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg) rs373390383 0.00002
NM_005027.4(PIK3R2):c.322+7A>G rs774883359 0.00002
NM_004958.4(MTOR):c.3117+34G>A rs545304092 0.00001
NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala) rs761536364 0.00001
NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln) rs1642555959 0.00001
NM_004958.4(MTOR):c.7447+27C>A rs369718641 0.00001
NM_005465.7(AKT3):c.504G>A (p.Lys168=) rs751924257 0.00001
NM_004958.4(MTOR):c.1249A>G (p.Met417Val) rs778680709
NM_004958.4(MTOR):c.3004C>T (p.Arg1002Ter) rs770601118
NM_004958.4(MTOR):c.4375G>T (p.Ala1459Ser) rs1644347846
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg) rs2100566800
NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser) rs2100477650
NM_004958.4(MTOR):c.5432G>T (p.Arg1811Leu) rs751393552
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) rs587777893
NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg) rs587777893
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro) rs1085307113
NM_004958.4(MTOR):c.997C>T (p.Leu333=) rs1288590431
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) rs397514606
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1631C>A (p.Thr544Asn) rs2108408335
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met) rs2108385317

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