ClinVar Miner

List of variants in gene LOC126805612, PIK3CD studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=) rs28730672 0.00360
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674 0.00337
NM_005026.5(PIK3CD):c.1021-20C>G rs199911701 0.00046
NM_005026.5(PIK3CD):c.1047C>T (p.His349=) rs148357976 0.00039
NM_005026.5(PIK3CD):c.1108G>A (p.Val370Met) rs143521812 0.00025
NM_005026.5(PIK3CD):c.1309C>T (p.Arg437Cys) rs28730673 0.00021
NM_005026.5(PIK3CD):c.1242+15C>T rs372679083 0.00020
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.1350C>T (p.Gly450=) rs149764166 0.00015
NM_005026.5(PIK3CD):c.1459G>A (p.Ala487Thr) rs201282174 0.00014
NM_005026.5(PIK3CD):c.1131C>T (p.Phe377=) rs113124534 0.00011
NM_005026.5(PIK3CD):c.1227G>A (p.Lys409=) rs145985960 0.00008
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met) rs571644641 0.00006
NM_005026.5(PIK3CD):c.1339+17G>A rs370327350 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.1212T>C (p.Ala404=) rs375505004 0.00005
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.1179G>A (p.Ala393=) rs763087095 0.00003
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=) rs758253493 0.00003
NM_005026.5(PIK3CD):c.1353G>A (p.Glu451=) rs147088845 0.00003
NM_005026.5(PIK3CD):c.1188C>T (p.Ala396=) rs144635462 0.00002
NM_005026.5(PIK3CD):c.1209G>A (p.Lys403=) rs753363954 0.00002
NM_005026.5(PIK3CD):c.1340-6G>A rs750252742 0.00002
NM_005026.5(PIK3CD):c.1446C>T (p.Pro482=) rs764261934 0.00002
NM_005026.5(PIK3CD):c.1053C>T (p.Asn351=) rs776959413 0.00001
NM_005026.5(PIK3CD):c.1065C>T (p.Cys355=) rs770064539 0.00001
NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg) rs774630166 0.00001
NM_005026.5(PIK3CD):c.1146C>T (p.Cys382=) rs746151747 0.00001
NM_005026.5(PIK3CD):c.1224G>A (p.Lys408=) rs573113022 0.00001
NM_005026.5(PIK3CD):c.1243-5T>C rs1476300761 0.00001
NM_005026.5(PIK3CD):c.1251C>T (p.Pro417=) rs113023172 0.00001
NM_005026.5(PIK3CD):c.1271T>C (p.Met424Thr) rs755144547 0.00001
NM_005026.5(PIK3CD):c.1290C>T (p.Asp430=) rs748134247 0.00001
NM_005026.5(PIK3CD):c.1340-12C>T rs767519516 0.00001
NM_005026.5(PIK3CD):c.1347G>A (p.Lys449=) rs376093013 0.00001
NM_005026.5(PIK3CD):c.1368G>A (p.Thr456=) rs141809100 0.00001
NM_005026.5(PIK3CD):c.1401C>T (p.Ser467=) rs200295565 0.00001
NM_005026.5(PIK3CD):c.1439C>T (p.Pro480Leu) rs766145180 0.00001
NM_005026.5(PIK3CD):c.1440G>A (p.Pro480=) rs374803520 0.00001
NM_005026.5(PIK3CD):c.1458C>T (p.Pro486=) rs757377156 0.00001
NM_005026.5(PIK3CD):c.1021-14G>A
NM_005026.5(PIK3CD):c.1021-16C>T
NM_005026.5(PIK3CD):c.1021-17C>A rs2100906404
NM_005026.5(PIK3CD):c.1021-17C>G rs2100906404
NM_005026.5(PIK3CD):c.1021-7T>A
NM_005026.5(PIK3CD):c.1021-9C>T
NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu) rs2100907022
NM_005026.5(PIK3CD):c.1029G>A (p.Val343=) rs1385002426
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.1073T>C (p.Val358Ala)
NM_005026.5(PIK3CD):c.1083G>A (p.Ser361=)
NM_005026.5(PIK3CD):c.1083G>C (p.Ser361=) rs1001849803
NM_005026.5(PIK3CD):c.1083G>T (p.Ser361=) rs1001849803
NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val) rs1647979472
NM_005026.5(PIK3CD):c.1092C>T (p.Ser364=) rs774630166
NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)
NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)
NM_005026.5(PIK3CD):c.1101G>A (p.Ser367=) rs750134067
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.1179G>T (p.Ala393=)
NM_005026.5(PIK3CD):c.1185C>T (p.Tyr395=)
NM_005026.5(PIK3CD):c.1188C>G (p.Ala396=)
NM_005026.5(PIK3CD):c.1194C>T (p.Ile398=) rs760322402
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>A rs2100910295
NM_005026.5(PIK3CD):c.1242+13G>T
NM_005026.5(PIK3CD):c.1242+16G>A
NM_005026.5(PIK3CD):c.1243-11T>C
NM_005026.5(PIK3CD):c.1243-15C>T
NM_005026.5(PIK3CD):c.1243-16C>T
NM_005026.5(PIK3CD):c.1243-7_1243-5del
NM_005026.5(PIK3CD):c.1243-9C>T rs2100933627
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
NM_005026.5(PIK3CD):c.1257C>T (p.Ala419=)
NM_005026.5(PIK3CD):c.1269C>T (p.Leu423=)
NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)
NM_005026.5(PIK3CD):c.1284C>T (p.Tyr428=) rs151045167
NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)
NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)
NM_005026.5(PIK3CD):c.1302C>T (p.Thr434=)
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.1332C>A (p.Ser444=) rs574697107
NM_005026.5(PIK3CD):c.1332C>T (p.Ser444=) rs574697107
NM_005026.5(PIK3CD):c.1333G>A (p.Val445Ile) rs762320758
NM_005026.5(PIK3CD):c.1339+16G>A
NM_005026.5(PIK3CD):c.1339+17G>C rs370327350
NM_005026.5(PIK3CD):c.1339+20G>A
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_005026.5(PIK3CD):c.1339+6C>T
NM_005026.5(PIK3CD):c.1339+8C>T
NM_005026.5(PIK3CD):c.1340-10_1340-9del rs2100937652
NM_005026.5(PIK3CD):c.1344G>C (p.Glu448Asp)
NM_005026.5(PIK3CD):c.1353G>C (p.Glu451Asp) rs147088845
NM_005026.5(PIK3CD):c.1354C>T (p.Leu452=) rs2100938056
NM_005026.5(PIK3CD):c.1355T>C (p.Leu452Pro)
NM_005026.5(PIK3CD):c.1362C>T (p.Asn454=)
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.1389C>T (p.Pro463=) rs2100938427
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005026.5(PIK3CD):c.1395G>A (p.Thr465=)
NM_005026.5(PIK3CD):c.1404C>T (p.Ala468=) rs771683726
NM_005026.5(PIK3CD):c.1428C>T (p.Pro476=)
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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