ClinVar Miner

List of variants in gene PPP3CA studied for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000944.5(PPP3CA):c.1156+7G>T rs79436394 0.01493
NM_000944.5(PPP3CA):c.1156+15C>G rs74569968 0.01492
NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=) rs150423845 0.00191
NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=) rs140517920 0.00164
NM_000944.5(PPP3CA):c.1241+17T>C rs202222838 0.00103
NM_000944.5(PPP3CA):c.496+11T>C rs369281154 0.00045
NM_000944.5(PPP3CA):c.384+18C>T rs3730253 0.00037
NM_000944.5(PPP3CA):c.87T>A (p.Leu29=) rs200922134 0.00026
NM_000944.5(PPP3CA):c.588G>A (p.Leu196=) rs142339019 0.00024
NM_000944.5(PPP3CA):c.138A>G (p.Leu46=) rs143169609 0.00019
NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=) rs200900879 0.00007
NM_000944.5(PPP3CA):c.497-20C>G rs540323683 0.00006
NM_000944.5(PPP3CA):c.558C>A (p.Pro186=) rs575861563 0.00003
NM_000944.5(PPP3CA):c.125G>A (p.Arg42His) rs762386324 0.00001
NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met) rs745416220 0.00001
NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=) rs1196954163 0.00001
NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln) rs368195162 0.00001
NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser) rs199874915 0.00001
NM_000944.5(PPP3CA):c.519C>T (p.Arg173=) rs752462646 0.00001
NM_000944.5(PPP3CA):c.783-7del rs746185638 0.00001
NM_000944.5(PPP3CA):c.829A>G (p.Ile277Val) rs540250871 0.00001
NM_000944.5(PPP3CA):c.861-14T>A rs780952005 0.00001
NM_000944.5(PPP3CA):c.1156+20G>C rs370212443
NM_000944.5(PPP3CA):c.1156+20G>T rs370212443
NM_000944.5(PPP3CA):c.1246_1248dup (p.Glu416_Ser417insGlu)
NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)
NM_000944.5(PPP3CA):c.1255_1256del (p.Ser419fs) rs1553920383
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs) rs1727004803
NM_000944.5(PPP3CA):c.1290dup (p.Met431fs) rs1560570541
NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs) rs2110205188
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) rs1553920379
NM_000944.5(PPP3CA):c.1308_1312dup (p.Ser438fs)
NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs) rs1578388765
NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter) rs1553920376
NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr) rs1553920374
NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn) rs1726628642
NM_000944.5(PPP3CA):c.1513T>C (p.Ser505Pro)
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) rs1553925558
NM_000944.5(PPP3CA):c.34_43del (p.Ser12fs) rs2110348535
NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly) rs2110253722
NM_000944.5(PPP3CA):c.58+42297A>C rs2110302904
NM_000944.5(PPP3CA):c.59-12350G>A rs2110202600
NM_000944.5(PPP3CA):c.656A>G (p.Lys219Arg) rs754775984
NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser) rs1334933549
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_000944.5(PPP3CA):c.955+18C>A rs370681817
NM_000944.5(PPP3CA):c.955+18C>T rs370681817

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