ClinVar Miner

List of variants in gene combination LOC126805612, PIK3CD reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.1319A>G (p.Tyr440Cys) rs1035624064 0.00018
NM_005026.5(PIK3CD):c.1121G>A (p.Arg374Gln) rs370509251 0.00016
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met) rs571644641 0.00006
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625 0.00006
NM_005026.5(PIK3CD):c.1402G>A (p.Ala468Thr) rs761356083 0.00006
NM_005026.5(PIK3CD):c.1070C>T (p.Thr357Met) rs775700162 0.00004
NM_005026.5(PIK3CD):c.1339+3C>T rs763675477 0.00004
NM_005026.5(PIK3CD):c.1021-3C>T rs933446799 0.00003
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=) rs758253493 0.00003
NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg) rs774630166 0.00001
NM_005026.5(PIK3CD):c.1271T>C (p.Met424Thr) rs755144547 0.00001
NM_005026.5(PIK3CD):c.1439C>T (p.Pro480Leu) rs766145180 0.00001
NM_005026.5(PIK3CD):c.1021-14G>A
NM_005026.5(PIK3CD):c.1021-7T>A
NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu) rs2100907022
NM_005026.5(PIK3CD):c.1047C>G (p.His349Gln)
NM_005026.5(PIK3CD):c.1048G>A (p.Gly350Ser)
NM_005026.5(PIK3CD):c.1054G>A (p.Glu352Lys)
NM_005026.5(PIK3CD):c.1057A>G (p.Met353Val) rs1647973216
NM_005026.5(PIK3CD):c.1072G>C (p.Val358Leu) rs763569477
NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val) rs1647979472
NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)
NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)
NM_005026.5(PIK3CD):c.1114A>G (p.Lys372Glu)
NM_005026.5(PIK3CD):c.1153C>T (p.Pro385Ser) rs2100908773
NM_005026.5(PIK3CD):c.1157G>A (p.Arg386His) rs373591202
NM_005026.5(PIK3CD):c.1165C>T (p.Arg389Cys)
NM_005026.5(PIK3CD):c.1214G>A (p.Arg405His) rs1219279866
NM_005026.5(PIK3CD):c.1220C>T (p.Thr407Ile)
NM_005026.5(PIK3CD):c.1241C>T (p.Ala414Val)
NM_005026.5(PIK3CD):c.1242+13G>T
NM_005026.5(PIK3CD):c.1243-7_1243-5del
NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)
NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)
NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)
NM_005026.5(PIK3CD):c.1303G>A (p.Gly435Arg)
NM_005026.5(PIK3CD):c.1306G>T (p.Glu436Ter)
NM_005026.5(PIK3CD):c.1310G>A (p.Arg437His)
NM_005026.5(PIK3CD):c.1331C>T (p.Ser444Phe) rs759238357
NM_005026.5(PIK3CD):c.1333G>A (p.Val445Ile) rs762320758
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_005026.5(PIK3CD):c.1339+6C>T
NM_005026.5(PIK3CD):c.1344G>C (p.Glu448Asp)
NM_005026.5(PIK3CD):c.1353G>C (p.Glu451Asp) rs147088845
NM_005026.5(PIK3CD):c.1355T>C (p.Leu452Pro)
NM_005026.5(PIK3CD):c.1363C>T (p.Pro455Ser)
NM_005026.5(PIK3CD):c.1367C>T (p.Thr456Met)
NM_005026.5(PIK3CD):c.1378C>T (p.Arg460Cys)
NM_005026.5(PIK3CD):c.1383T>G (p.Ser461Arg)
NM_005026.5(PIK3CD):c.1432G>A (p.Val478Met) rs1648292751
NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr) rs1648293206
NM_005026.5(PIK3CD):c.1442A>C (p.His481Pro)

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