ClinVar Miner

List of variants in gene PSTPIP1 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.930-278T>C rs9806416 0.61523
NM_003978.5(PSTPIP1):c.838+145A>G rs4078354 0.59602
NM_003978.5(PSTPIP1):c.37-144C>G rs12900395 0.41549
NM_003978.5(PSTPIP1):c.36+68G>A rs2254441 0.29575
NM_003978.5(PSTPIP1):c.562+114C>T rs3935339 0.28862
NM_003978.5(PSTPIP1):c.516+177A>G rs56103874 0.23235
NM_003978.5(PSTPIP1):c.642+107C>A rs12903227 0.23133
NM_003978.5(PSTPIP1):c.1119+309G>C rs11854745 0.06461
NM_003978.5(PSTPIP1):c.138-72T>G rs76009365 0.05269
NM_003978.5(PSTPIP1):c.562+116C>T rs117745032 0.04588
NM_003978.5(PSTPIP1):c.741+41C>T rs3812916 0.04188
NM_003978.5(PSTPIP1):c.417+232G>C rs3812915 0.04173
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480 0.04154
NM_003978.5(PSTPIP1):c.248-66G>A rs55775608 0.04049
NM_003978.5(PSTPIP1):c.137+57G>A rs3812912 0.03942
NM_003978.5(PSTPIP1):c.563-82G>A rs10152353 0.03878
NM_003978.5(PSTPIP1):c.643-291C>G rs74025047 0.03800
NM_003978.5(PSTPIP1):c.742-266G>A rs116894585 0.03658
NM_003978.5(PSTPIP1):c.354+185C>T rs11636266 0.03629
NM_003978.5(PSTPIP1):c.516+160G>A rs80152051 0.03319
NM_003978.5(PSTPIP1):c.417+207_417+208del rs3841234 0.02970
NM_003978.5(PSTPIP1):c.137+28C>T rs79438763 0.02640
NM_003978.5(PSTPIP1):c.741+273C>T rs79732372 0.02610
NM_003978.5(PSTPIP1):c.838+40T>C rs77968440 0.01919
NM_003978.5(PSTPIP1):c.*51G>A rs117378779 0.01876
NM_003978.5(PSTPIP1):c.417+62G>C rs72643467 0.01430
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_003978.5(PSTPIP1):c.642+256G>A rs113599218 0.01293
NM_003978.5(PSTPIP1):c.985+67G>A rs115368425 0.01231
NM_003978.5(PSTPIP1):c.562+141C>T rs116142711 0.01153
NM_003978.5(PSTPIP1):c.417+156C>T rs113421352 0.01064
NM_003978.5(PSTPIP1):c.642+64C>T rs79985146 0.01040
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_003978.5(PSTPIP1):c.517-149G>T rs115670384 0.00991
NM_003978.5(PSTPIP1):c.643-128T>C rs114248616 0.00945
NM_003978.5(PSTPIP1):c.563-252A>G rs112105697 0.00940
NM_003978.5(PSTPIP1):c.212+248T>C rs112070036 0.00899
NM_003978.5(PSTPIP1):c.36+147G>T rs112875317 0.00899
NM_003978.5(PSTPIP1):c.37-200A>C rs113013219 0.00892
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_003978.5(PSTPIP1):c.643-48G>A rs184445497 0.00833
NM_003978.5(PSTPIP1):c.354+39T>A rs12906071 0.00831
NM_003978.5(PSTPIP1):c.36+131A>G rs74569844 0.00789
NM_003978.5(PSTPIP1):c.137+20del rs199952167 0.00688
NM_003978.5(PSTPIP1):c.838+124G>A rs186871734 0.00585
NM_003978.5(PSTPIP1):c.138-83A>T rs3812913 0.00535
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914 0.00534
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306 0.00523
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_003978.5(PSTPIP1):c.643-154C>T rs142149106 0.00463
NM_003978.5(PSTPIP1):c.929+108C>G rs181432186 0.00426
NM_003978.5(PSTPIP1):c.*286T>C rs79947875 0.00409
NM_003978.5(PSTPIP1):c.986-63G>A rs114366335 0.00398
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_003978.5(PSTPIP1):c.*38T>C rs201535027 0.00346
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424 0.00308
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_003978.5(PSTPIP1):c.562+47G>A rs187712861 0.00213
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419 0.00191
NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) rs145239831 0.00173
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170 0.00163
NM_003978.5(PSTPIP1):c.37-44C>T rs78947529 0.00137
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087 0.00114
NM_003978.5(PSTPIP1):c.838+82G>A rs56266471 0.00099
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_003978.5(PSTPIP1):c.516+61G>A rs540606788 0.00073
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330 0.00037
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.929+17C>T rs372335370 0.00028
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn) rs372261106 0.00024
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040 0.00013
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681 0.00011
NM_003978.5(PSTPIP1):c.1120-20G>A rs200256020 0.00010
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=) rs199804922 0.00009
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val) rs139351566 0.00009
NM_003978.5(PSTPIP1):c.1045G>A (p.Ala349Thr) rs187211142 0.00008
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947 0.00005
NM_003978.5(PSTPIP1):c.-138A>T rs535408605 0.00004
NM_003978.5(PSTPIP1):c.1044C>T (p.Ile348=) rs370740664 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=) rs368685017 0.00004
NM_003978.5(PSTPIP1):c.838+31C>G rs545108125 0.00004
NM_003978.5(PSTPIP1):c.1158G>A (p.Leu386=) rs752462668 0.00003
NM_003978.5(PSTPIP1):c.418-18G>A rs1281406107 0.00003
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616 0.00003
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=) rs201770311 0.00003
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325 0.00003
NM_003978.5(PSTPIP1):c.1071G>A (p.Pro357=) rs367643394 0.00002
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011 0.00002
NM_003978.5(PSTPIP1):c.643-13C>A rs200459219 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=) rs373516507 0.00002
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met) rs766895096 0.00002
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=) rs1224633016 0.00002
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164 0.00002
NM_003978.5(PSTPIP1):c.985+42G>A rs778238424 0.00002
NM_003978.5(PSTPIP1):c.138-6T>C rs765550656 0.00001
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.37-5C>T rs879254119 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_003978.5(PSTPIP1):c.564G>A (p.Glu188=) rs879253893 0.00001
NM_003978.5(PSTPIP1):c.675C>T (p.Thr225=) rs770958110 0.00001
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572 0.00001
NM_001321137.1(PSTPIP1):c.26+155C>T rs115845814
NM_001411086.1(PSTPIP1):c.986-9_986-8del rs2076551553
NM_003978.3(PSTPIP1):c.517_518delAG rs878855322
NM_003978.5(PSTPIP1):c.*156_*158del rs147238110
NM_003978.5(PSTPIP1):c.-16C>T rs372407300
NM_003978.5(PSTPIP1):c.1115C>A (p.Ala372Glu) rs200188483
NM_003978.5(PSTPIP1):c.1119+33C>G rs151068642
NM_003978.5(PSTPIP1):c.1120-44_1120-31del rs201788590
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433
NM_003978.5(PSTPIP1):c.137+47G>C rs3812911
NM_003978.5(PSTPIP1):c.138-5dup rs755268431
NM_003978.5(PSTPIP1):c.138-8T>C rs1057523945
NM_003978.5(PSTPIP1):c.228C>T (p.Ser76=)
NM_003978.5(PSTPIP1):c.247+2T>G rs1385788673
NM_003978.5(PSTPIP1):c.354+20C>A rs184279306
NM_003978.5(PSTPIP1):c.36+15T>C rs752123803
NM_003978.5(PSTPIP1):c.36+201G>T rs114245955
NM_003978.5(PSTPIP1):c.417+176G>T rs148152818
NM_003978.5(PSTPIP1):c.434A>G (p.Glu145Gly) rs2152686006
NM_003978.5(PSTPIP1):c.53C>A (p.Ala18Asp)
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=) rs879254120
NM_003978.5(PSTPIP1):c.560C>G (p.Ala187Gly) rs2152686807
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.642+30C>G rs2152687623
NM_003978.5(PSTPIP1):c.642+87T>C rs2469237
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) rs139362350
NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.706A>C (p.Asn236His)
NM_003978.5(PSTPIP1):c.720G>T (p.Met240Ile)
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_003978.5(PSTPIP1):c.813C>T (p.Ala271=) rs1596127197
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+17G>C rs371715620
NM_003978.5(PSTPIP1):c.838+45C>G rs116895455
NM_003978.5(PSTPIP1):c.839-12dup rs759640462
NM_003978.5(PSTPIP1):c.839-17C>A rs770543515
NM_003978.5(PSTPIP1):c.839-4G>A rs1367241638
NM_003978.5(PSTPIP1):c.912C>A (p.Ser304=) rs1181224630
NM_003978.5(PSTPIP1):c.930-295C>T rs114457774
NM_003978.5(PSTPIP1):c.986-33dup rs11373069

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