ClinVar Miner

List of variants in gene PPP2CA studied for not provided

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Gene type:
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Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_002715.4(PPP2CA):c.-37C>G rs3863186 0.73936
NM_002715.4(PPP2CA):c.486+20A>G rs41298954 0.00960
NM_002715.4(PPP2CA):c.576+17A>G rs376022189 0.00144
NM_002715.4(PPP2CA):c.577-5T>C rs151004119 0.00125
NM_002715.4(PPP2CA):c.180G>A (p.Gly60=) rs145699446 0.00026
NM_002715.4(PPP2CA):c.837C>T (p.Asp279=) rs201998249 0.00024
NM_002715.4(PPP2CA):c.313-17G>C rs377195326 0.00019
NM_002715.4(PPP2CA):c.132C>T (p.Asn44=) rs147066435 0.00015
NM_002715.4(PPP2CA):c.420A>C (p.Ala140=) rs373404752 0.00009
NM_002715.4(PPP2CA):c.705G>A (p.Thr235=) rs369531838 0.00005
NM_002715.4(PPP2CA):c.513G>A (p.Ser171=) rs778165477 0.00004
NM_002715.4(PPP2CA):c.312+10A>G rs184810487 0.00003
NM_002715.4(PPP2CA):c.313-15A>G rs374190802 0.00003
NM_002715.4(PPP2CA):c.756T>C (p.His252=) rs146517597 0.00003
NM_002715.4(PPP2CA):c.857+17G>C rs757879622 0.00003
NM_002715.4(PPP2CA):c.774G>A (p.Thr258=) rs768863660 0.00002
NM_002715.4(PPP2CA):c.312+15A>T rs367667209 0.00001
NM_002715.4(PPP2CA):c.322C>A (p.Arg108Ser) rs749041136 0.00001
NM_002715.4(PPP2CA):c.423T>C (p.Asn141=) rs770366628 0.00001
NM_002715.4(PPP2CA):c.576+10T>C rs754268759 0.00001
NM_002715.4(PPP2CA):c.577-15dup rs753654848 0.00001
NM_002715.4(PPP2CA):c.645A>G (p.Gly215=) rs1335776643 0.00001
NM_002715.4(PPP2CA):c.678G>A (p.Glu226=) rs139617743 0.00001
NM_002715.4(PPP2CA):c.681A>G (p.Thr227=) rs1278766294 0.00001
NM_002715.4(PPP2CA):c.693C>A (p.Ala231=) rs201478092 0.00001
NM_002715.4(PPP2CA):c.822A>C (p.Ala274=) rs756668978 0.00001
NM_002715.4(PPP2CA):c.858-15G>A rs747617155 0.00001
NC_000005.9:g.(?_133533463)_(133534915_?)dup
NC_000005.9:g.(?_133533463)_(133541842_?)dup
NM_002715.4(PPP2CA):c.-4CAT[1] (p.Met1del) rs2149390367
NM_002715.4(PPP2CA):c.102+11G>A
NM_002715.4(PPP2CA):c.102+16G>C
NM_002715.4(PPP2CA):c.102+17C>A
NM_002715.4(PPP2CA):c.102+17C>T
NM_002715.4(PPP2CA):c.102+20C>T
NM_002715.4(PPP2CA):c.102+8G>T rs1762564166
NM_002715.4(PPP2CA):c.103-3T>C rs752451431
NM_002715.4(PPP2CA):c.103-5T>G
NM_002715.4(PPP2CA):c.103-8A>T
NM_002715.4(PPP2CA):c.103-9C>T
NM_002715.4(PPP2CA):c.116T>A (p.Leu39Gln) rs2149384619
NM_002715.4(PPP2CA):c.130A>G (p.Asn44Asp)
NM_002715.4(PPP2CA):c.141G>A (p.Glu47=)
NM_002715.4(PPP2CA):c.149G>C (p.Cys50Ser)
NM_002715.4(PPP2CA):c.154G>T (p.Val52Phe) rs2149384607
NM_002715.4(PPP2CA):c.162C>G (p.Val54=)
NM_002715.4(PPP2CA):c.164G>T (p.Cys55Phe) rs2149384599
NM_002715.4(PPP2CA):c.169G>A (p.Asp57Asn)
NM_002715.4(PPP2CA):c.185T>A (p.Phe62Tyr)
NM_002715.4(PPP2CA):c.188A>G (p.His63Arg) rs2149384593
NM_002715.4(PPP2CA):c.193C>T (p.Leu65Phe)
NM_002715.4(PPP2CA):c.222A>G (p.Lys74=)
NM_002715.4(PPP2CA):c.231T>C (p.Asp77=)
NM_002715.4(PPP2CA):c.239A>C (p.Tyr80Ser)
NM_002715.4(PPP2CA):c.257A>T (p.Tyr86Phe)
NM_002715.4(PPP2CA):c.258T>C (p.Tyr86=)
NM_002715.4(PPP2CA):c.272ATT[1] (p.Tyr92del)
NM_002715.4(PPP2CA):c.279A>G (p.Ser93=)
NM_002715.4(PPP2CA):c.282T>A (p.Val94=)
NM_002715.4(PPP2CA):c.295C>G (p.Leu99Val)
NM_002715.4(PPP2CA):c.298C>T (p.Leu100Phe)
NM_002715.4(PPP2CA):c.299T>A (p.Leu100His)
NM_002715.4(PPP2CA):c.304G>A (p.Ala102Thr)
NM_002715.4(PPP2CA):c.304G>T (p.Ala102Ser)
NM_002715.4(PPP2CA):c.311A>T (p.Lys104Met)
NM_002715.4(PPP2CA):c.312+17G>A
NM_002715.4(PPP2CA):c.312+18T>G
NM_002715.4(PPP2CA):c.313-12T>C
NM_002715.4(PPP2CA):c.313-3T>C
NM_002715.4(PPP2CA):c.313-4T>A
NM_002715.4(PPP2CA):c.313-4T>G
NM_002715.4(PPP2CA):c.313-7_313-5del
NM_002715.4(PPP2CA):c.316C>G (p.Arg106Gly)
NM_002715.4(PPP2CA):c.322C>T (p.Arg108Cys) rs749041136
NM_002715.4(PPP2CA):c.323G>A (p.Arg108His)
NM_002715.4(PPP2CA):c.324T>G (p.Arg108=)
NM_002715.4(PPP2CA):c.325G>A (p.Glu109Lys)
NM_002715.4(PPP2CA):c.326A>G (p.Glu109Gly)
NM_002715.4(PPP2CA):c.329G>A (p.Arg110His)
NM_002715.4(PPP2CA):c.336C>T (p.Thr112=)
NM_002715.4(PPP2CA):c.344G>A (p.Arg115Gln) rs2149383425
NM_002715.4(PPP2CA):c.353A>G (p.His118Arg) rs2149383419
NM_002715.4(PPP2CA):c.366G>A (p.Gln122=)
NM_002715.4(PPP2CA):c.380A>G (p.Tyr127Cys) rs1580637688
NM_002715.4(PPP2CA):c.384T>A (p.Gly128=)
NM_002715.4(PPP2CA):c.389A>G (p.Tyr130Cys)
NM_002715.4(PPP2CA):c.3G>A (p.Met1Ile) rs2149390365
NM_002715.4(PPP2CA):c.401del (p.Cys133_Leu134insTer) rs2149383411
NM_002715.4(PPP2CA):c.410A>G (p.Tyr137Cys)
NM_002715.4(PPP2CA):c.411T>C (p.Tyr137=)
NM_002715.4(PPP2CA):c.414A>G (p.Gly138=)
NM_002715.4(PPP2CA):c.455A>G (p.Tyr152Cys)
NM_002715.4(PPP2CA):c.463C>G (p.Leu155Val)
NM_002715.4(PPP2CA):c.472T>C (p.Leu158=)
NM_002715.4(PPP2CA):c.473TGG[1] (p.Val159del)
NM_002715.4(PPP2CA):c.477G>A (p.Val159=) rs1761973211
NM_002715.4(PPP2CA):c.478G>T (p.Asp160Tyr)
NM_002715.4(PPP2CA):c.483G>A (p.Gly161=)
NM_002715.4(PPP2CA):c.487-20T>A
NM_002715.4(PPP2CA):c.487-5_487-4dup
NM_002715.4(PPP2CA):c.492C>T (p.Phe164=) rs1761958638
NM_002715.4(PPP2CA):c.500A>G (p.His167Arg)
NM_002715.4(PPP2CA):c.504T>G (p.Gly168=)
NM_002715.4(PPP2CA):c.519T>G (p.Ser173=)
NM_002715.4(PPP2CA):c.530T>G (p.Leu177Arg)
NM_002715.4(PPP2CA):c.537T>G (p.His179Gln)
NM_002715.4(PPP2CA):c.539T>G (p.Ile180Ser)
NM_002715.4(PPP2CA):c.545C>T (p.Ala182Val)
NM_002715.4(PPP2CA):c.548T>C (p.Leu183Pro)
NM_002715.4(PPP2CA):c.549T>A (p.Leu183=)
NM_002715.4(PPP2CA):c.553C>T (p.Arg185Cys) rs2149383151
NM_002715.4(PPP2CA):c.556C>T (p.Leu186=) rs2149383150
NM_002715.4(PPP2CA):c.558del (p.Gln187fs) rs2149383148
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.576+10_576+11del
NM_002715.4(PPP2CA):c.576+11T>C rs2149383138
NM_002715.4(PPP2CA):c.576+12A>G
NM_002715.4(PPP2CA):c.576+13T>C
NM_002715.4(PPP2CA):c.576+19A>G rs1283422345
NM_002715.4(PPP2CA):c.576+5G>A
NM_002715.4(PPP2CA):c.576+7_576+9del
NM_002715.4(PPP2CA):c.577-12G>T
NM_002715.4(PPP2CA):c.577-4T>C
NM_002715.4(PPP2CA):c.577-9A>G
NM_002715.4(PPP2CA):c.591C>T (p.Asp197=)
NM_002715.4(PPP2CA):c.597G>A (p.Leu199=)
NM_002715.4(PPP2CA):c.617G>A (p.Arg206His)
NM_002715.4(PPP2CA):c.621T>G (p.Gly207=)
NM_002715.4(PPP2CA):c.624T>C (p.Gly208=)
NM_002715.4(PPP2CA):c.631A>G (p.Ile211Val)
NM_002715.4(PPP2CA):c.651T>C (p.Gly217=)
NM_002715.4(PPP2CA):c.666A>G (p.Gln222=)
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_002715.4(PPP2CA):c.667G>T (p.Asp223Tyr)
NM_002715.4(PPP2CA):c.668A>G (p.Asp223Gly)
NM_002715.4(PPP2CA):c.690T>C (p.His230=)
NM_002715.4(PPP2CA):c.693C>T (p.Ala231=)
NM_002715.4(PPP2CA):c.695A>G (p.Asn232Ser)
NM_002715.4(PPP2CA):c.697G>T (p.Gly233Cys) rs2149382970
NM_002715.4(PPP2CA):c.705G>T (p.Thr235=)
NM_002715.4(PPP2CA):c.738+8G>A
NM_002715.4(PPP2CA):c.739-15T>A
NM_002715.4(PPP2CA):c.739-17T>A
NM_002715.4(PPP2CA):c.739-19del rs2149382677
NM_002715.4(PPP2CA):c.739-3C>A
NM_002715.4(PPP2CA):c.739-3dup
NM_002715.4(PPP2CA):c.739-9del
NM_002715.4(PPP2CA):c.744_745del (p.Tyr248_Asn249delinsTer) rs2149382671
NM_002715.4(PPP2CA):c.747C>T (p.Asn249=)
NM_002715.4(PPP2CA):c.761G>A (p.Arg254Gln)
NM_002715.4(PPP2CA):c.765T>C (p.Asn255=)
NM_002715.4(PPP2CA):c.801T>C (p.Tyr267=)
NM_002715.4(PPP2CA):c.814C>T (p.Gln272Ter)
NM_002715.4(PPP2CA):c.816A>G (p.Gln272=)
NM_002715.4(PPP2CA):c.826A>G (p.Met276Val) rs2149382652
NM_002715.4(PPP2CA):c.841_842insAA (p.Thr281fs) rs2149382649
NM_002715.4(PPP2CA):c.846A>G (p.Leu282=) rs368267493
NM_002715.4(PPP2CA):c.852C>G (p.Tyr284Ter)
NM_002715.4(PPP2CA):c.852C>T (p.Tyr284=) rs777385847
NM_002715.4(PPP2CA):c.855T>C (p.Ser285=) rs2149382640
NM_002715.4(PPP2CA):c.857+14C>T rs2149382638
NM_002715.4(PPP2CA):c.857+20C>G rs2149382632
NM_002715.4(PPP2CA):c.857+20_857+21del
NM_002715.4(PPP2CA):c.858-15G>T rs747617155
NM_002715.4(PPP2CA):c.858-16C>T rs374292745
NM_002715.4(PPP2CA):c.858-8T>C
NM_002715.4(PPP2CA):c.863A>C (p.Gln288Pro) rs2149382258
NM_002715.4(PPP2CA):c.870C>G (p.Asp290Glu)
NM_002715.4(PPP2CA):c.882T>C (p.Arg294=)
NM_002715.4(PPP2CA):c.888C>T (p.Gly296=)
NM_002715.4(PPP2CA):c.889G>A (p.Glu297Lys)
NM_002715.4(PPP2CA):c.906T>A (p.Arg302=)
NM_002715.4(PPP2CA):c.920A>G (p.Tyr307Cys) rs2149382243
NM_002715.4(PPP2CA):c.921C>T (p.Tyr307=)

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