ClinVar Miner

List of variants in gene PSTPIP1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.*145C>T rs965236443 0.00031
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn) rs372261106 0.00024
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) rs370965231 0.00022
NM_003978.5(PSTPIP1):c.628C>T (p.Arg210Trp) rs200998074 0.00022
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala) rs781781950 0.00014
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_003978.5(PSTPIP1):c.*122G>A rs527679453 0.00011
NM_003978.5(PSTPIP1):c.516G>A (p.Lys172=) rs887917369 0.00011
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.307C>T (p.Arg103Trp) rs768395688 0.00008
NM_003978.5(PSTPIP1):c.583A>T (p.Ile195Phe) rs1038499600 0.00008
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) rs369498554 0.00007
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.1214G>A (p.Arg405His) rs754321842 0.00006
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) rs771232034 0.00005
NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser) rs370404621 0.00004
NM_003978.5(PSTPIP1):c.1093C>T (p.Arg365Trp) rs748306987 0.00004
NM_003978.5(PSTPIP1):c.212A>G (p.Asn71Ser) rs961668608 0.00004
NM_003978.5(PSTPIP1):c.214T>C (p.Ser72Pro) rs866295227 0.00004
NM_003978.5(PSTPIP1):c.548C>T (p.Ser183Leu) rs772549153 0.00004
NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln) rs372461120 0.00004
NM_003978.5(PSTPIP1):c.839-16G>A rs776337082 0.00004
NM_003978.5(PSTPIP1):c.296G>T (p.Arg99Leu) rs371065077 0.00003
NM_003978.5(PSTPIP1):c.352A>C (p.Lys118Gln) rs1000642747 0.00003
NM_003978.5(PSTPIP1):c.566G>A (p.Arg189Gln) rs375294517 0.00003
NM_003978.5(PSTPIP1):c.642+3G>A rs765423624 0.00003
NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter) rs751668240 0.00003
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325 0.00003
NM_003978.5(PSTPIP1):c.924A>G (p.Ile308Met) rs748788047 0.00003
NM_003978.5(PSTPIP1):c.1120-9C>G rs747139033 0.00002
NM_003978.5(PSTPIP1):c.1120A>C (p.Asn374His) rs757828114 0.00002
NM_003978.5(PSTPIP1):c.1183G>A (p.Gly395Ser) rs142544259 0.00002
NM_003978.5(PSTPIP1):c.308G>A (p.Arg103Gln) rs1250282129 0.00002
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His) rs772315853 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.682C>T (p.Arg228Cys) rs781341816 0.00002
NM_003978.5(PSTPIP1):c.758G>A (p.Arg253Gln) rs775811275 0.00002
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met) rs766895096 0.00002
NM_003978.5(PSTPIP1):c.968C>T (p.Ser323Leu) rs765187272 0.00002
NM_003978.5(PSTPIP1):c.1015G>A (p.Glu339Lys) rs372468528 0.00001
NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr) rs1309288797 0.00001
NM_003978.5(PSTPIP1):c.1048G>A (p.Val350Met) rs368482922 0.00001
NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys) rs781251437 0.00001
NM_003978.5(PSTPIP1):c.1097C>T (p.Ala366Val) rs773832598 0.00001
NM_003978.5(PSTPIP1):c.1126G>A (p.Asp376Asn) rs984709043 0.00001
NM_003978.5(PSTPIP1):c.1180G>A (p.Asp394Asn) rs377006780 0.00001
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp) rs375063664 0.00001
NM_003978.5(PSTPIP1):c.212+5G>A rs1280331114 0.00001
NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu) rs199800583 0.00001
NM_003978.5(PSTPIP1):c.253G>A (p.Glu85Lys) rs1433818911 0.00001
NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val) rs775041579 0.00001
NM_003978.5(PSTPIP1):c.316G>A (p.Glu106Lys) rs1141039 0.00001
NM_003978.5(PSTPIP1):c.318G>C (p.Glu106Asp) rs1415307232 0.00001
NM_003978.5(PSTPIP1):c.325C>T (p.Arg109Cys) rs569030059 0.00001
NM_003978.5(PSTPIP1):c.36+10610A>G rs2075813588 0.00001
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107 0.00001
NM_003978.5(PSTPIP1):c.395C>T (p.Ser132Leu) rs777409558 0.00001
NM_003978.5(PSTPIP1):c.400T>C (p.Tyr134His) rs374212404 0.00001
NM_003978.5(PSTPIP1):c.454G>C (p.Asp152His) rs375932577 0.00001
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln) rs886051493 0.00001
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser) rs1397291808 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_003978.5(PSTPIP1):c.503A>G (p.Lys168Arg) rs770462479 0.00001
NM_003978.5(PSTPIP1):c.516+4C>A rs752232834 0.00001
NM_003978.5(PSTPIP1):c.516+5G>A rs997648680 0.00001
NM_003978.5(PSTPIP1):c.565C>T (p.Arg189Trp) rs542018257 0.00001
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys) rs760587319 0.00001
NM_003978.5(PSTPIP1):c.604C>T (p.Arg202Trp) rs781549267 0.00001
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205 0.00001
NM_003978.5(PSTPIP1):c.683G>A (p.Arg228His) rs1386762740 0.00001
NM_003978.5(PSTPIP1):c.702C>G (p.His234Gln) rs1420190742 0.00001
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys) rs1283948312 0.00001
NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly) rs1333618864 0.00001
NM_003978.5(PSTPIP1):c.816G>C (p.Lys272Asn) rs867312193 0.00001
NM_003978.5(PSTPIP1):c.831G>T (p.Glu277Asp) rs990986006 0.00001
NM_003978.5(PSTPIP1):c.83G>A (p.Arg28Gln) rs750445188 0.00001
NM_003978.5(PSTPIP1):c.86T>C (p.Leu29Pro) rs1375790630 0.00001
NM_003978.5(PSTPIP1):c.881C>T (p.Pro294Leu) rs756411737 0.00001
NM_003978.5(PSTPIP1):c.929+5G>A rs768632688 0.00001
NM_003978.5(PSTPIP1):c.949G>A (p.Gly317Arg) rs557172402 0.00001
NM_003978.5(PSTPIP1):c.994G>A (p.Glu332Lys) rs751889307 0.00001
NM_003978.5(PSTPIP1):c.997A>C (p.Thr333Pro) rs746898326 0.00001
NC_000015.10:g.(?_77030482)_(77037196_?)dup
NC_000015.9:g.(?_77287915)_(77287970_?)dup
NC_000015.9:g.(?_77287915)_(77310892_?)dup
NC_000015.9:g.(?_77310469)_(77329517_?)dup
NC_000015.9:g.(?_77310861)_(77315342_?)del
NC_000015.9:g.(?_77310868)_77315342del
NC_000015.9:g.(?_77317605)_(77317965_?)del
NC_000015.9:g.(?_77317819)_(77321013_?)del
NC_000015.9:g.(?_77320875)_(77328296_?)del
NC_000015.9:g.(?_77327829)_(77327924_?)del
NM_003978.3(PSTPIP1):c.517_518delAG rs878855322
NM_003978.5(PSTPIP1):c.*123T>C rs886051494
NM_003978.5(PSTPIP1):c.*98C>G rs1264249832
NM_003978.5(PSTPIP1):c.1019G>A (p.Arg340Gln) rs768664787
NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp) rs374682350
NM_003978.5(PSTPIP1):c.1055A>C (p.Glu352Ala)
NM_003978.5(PSTPIP1):c.1060C>T (p.Gln354Ter)
NM_003978.5(PSTPIP1):c.1064G>T (p.Gly355Val) rs2152692046
NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu) rs755840747
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu) rs768897476
NM_003978.5(PSTPIP1):c.1104C>A (p.Tyr368Ter) rs368373680
NM_003978.5(PSTPIP1):c.1110T>A (p.Tyr370Ter) rs762667938
NM_003978.5(PSTPIP1):c.1119+5G>A rs756068066
NM_003978.5(PSTPIP1):c.1119+5G>C rs756068066
NM_003978.5(PSTPIP1):c.1120-13A>G
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1129G>A (p.Glu377Lys)
NM_003978.5(PSTPIP1):c.1144G>C (p.Ala382Pro) rs145344175
NM_003978.5(PSTPIP1):c.1144G>T (p.Ala382Ser)
NM_003978.5(PSTPIP1):c.1145C>A (p.Ala382Glu) rs202205180
NM_003978.5(PSTPIP1):c.1150G>A (p.Asp384Asn)
NM_003978.5(PSTPIP1):c.1172_1175dup (p.Glu393fs)
NM_003978.5(PSTPIP1):c.1177G>A (p.Glu393Lys) rs781437901
NM_003978.5(PSTPIP1):c.1184G>A (p.Gly395Asp) rs2076598654
NM_003978.5(PSTPIP1):c.1192A>G (p.Thr398Ala)
NM_003978.5(PSTPIP1):c.1196T>C (p.Val399Ala) rs1193580867
NM_003978.5(PSTPIP1):c.1201A>G (p.Arg401Gly) rs2076599290
NM_003978.5(PSTPIP1):c.1207G>A (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1220T>C (p.Phe407Ser) rs2152692942
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_003978.5(PSTPIP1):c.1223T>A (p.Val408Asp)
NM_003978.5(PSTPIP1):c.1225C>T (p.Pro409Ser)
NM_003978.5(PSTPIP1):c.1226C>T (p.Pro409Leu)
NM_003978.5(PSTPIP1):c.1228G>A (p.Gly410Ser) rs2152692953
NM_003978.5(PSTPIP1):c.1237C>G (p.Leu413Val)
NM_003978.5(PSTPIP1):c.1241A>G (p.Glu414Gly)
NM_003978.5(PSTPIP1):c.1241A>T (p.Glu414Val) rs2152692961
NM_003978.5(PSTPIP1):c.1242G>C (p.Glu414Asp) rs1158206044
NM_003978.5(PSTPIP1):c.1243A>C (p.Lys415Gln) rs2076601376
NM_003978.5(PSTPIP1):c.127C>G (p.Leu43Val) rs2152678787
NM_003978.5(PSTPIP1):c.137+6C>T
NM_003978.5(PSTPIP1):c.172G>T (p.Val58Leu)
NM_003978.5(PSTPIP1):c.177del (p.Ile60fs) rs2152679010
NM_003978.5(PSTPIP1):c.17A>G (p.Gln6Arg)
NM_003978.5(PSTPIP1):c.17A>T (p.Gln6Leu)
NM_003978.5(PSTPIP1):c.181G>A (p.Ala61Thr)
NM_003978.5(PSTPIP1):c.181G>T (p.Ala61Ser) rs568503340
NM_003978.5(PSTPIP1):c.185G>A (p.Arg62Gln) rs754304151
NM_003978.5(PSTPIP1):c.212+1G>A rs2152679042
NM_003978.5(PSTPIP1):c.213-8T>G
NM_003978.5(PSTPIP1):c.214T>A (p.Ser72Thr)
NM_003978.5(PSTPIP1):c.224C>T (p.Ala75Val) rs2152683730
NM_003978.5(PSTPIP1):c.244C>T (p.Gln82Ter)
NM_003978.5(PSTPIP1):c.245A>G (p.Gln82Arg)
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.247C>T (p.Gln83Ter) rs377719165
NM_003978.5(PSTPIP1):c.255G>C (p.Glu85Asp) rs1014025734
NM_003978.5(PSTPIP1):c.256A>G (p.Asn86Asp) rs2152683891
NM_003978.5(PSTPIP1):c.296G>A (p.Arg99His)
NM_003978.5(PSTPIP1):c.304C>G (p.Leu102Val) rs1401702747
NM_003978.5(PSTPIP1):c.305T>C (p.Leu102Pro)
NM_003978.5(PSTPIP1):c.32T>C (p.Phe11Ser)
NM_003978.5(PSTPIP1):c.344A>C (p.Gln115Pro) rs2076261726
NM_003978.5(PSTPIP1):c.351G>T (p.Lys117Asn)
NM_003978.5(PSTPIP1):c.354+20_354+21delinsTC
NM_003978.5(PSTPIP1):c.355-12T>C
NM_003978.5(PSTPIP1):c.355-2A>G
NM_003978.5(PSTPIP1):c.355-4G>A rs1596111331
NM_003978.5(PSTPIP1):c.35G>C (p.Trp12Ser)
NM_003978.5(PSTPIP1):c.374G>A (p.Arg125Gln)
NM_003978.5(PSTPIP1):c.376G>A (p.Val126Ile)
NM_003978.5(PSTPIP1):c.376G>T (p.Val126Phe) rs1468002596
NM_003978.5(PSTPIP1):c.38_39delinsTT (p.Cys13Phe) rs2152678700
NM_003978.5(PSTPIP1):c.395C>G (p.Ser132Trp)
NM_003978.5(PSTPIP1):c.39C>G (p.Cys13Trp) rs2076087868
NM_003978.5(PSTPIP1):c.403AAG[1] (p.Lys136del)
NM_003978.5(PSTPIP1):c.417+6C>G rs2076320514
NM_003978.5(PSTPIP1):c.418-4_418-3del rs749862420
NM_003978.5(PSTPIP1):c.41G>A (p.Arg14Lys)
NM_003978.5(PSTPIP1):c.425A>C (p.Lys142Thr) rs1181890332
NM_003978.5(PSTPIP1):c.430T>C (p.Tyr144His)
NM_003978.5(PSTPIP1):c.430T>G (p.Tyr144Asp) rs377240256
NM_003978.5(PSTPIP1):c.431A>T (p.Tyr144Phe) rs2076340597
NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter) rs370003508
NM_003978.5(PSTPIP1):c.433G>A (p.Glu145Lys)
NM_003978.5(PSTPIP1):c.438G>A (p.Gln146=) rs1141041
NM_003978.5(PSTPIP1):c.443G>T (p.Cys148Phe)
NM_003978.5(PSTPIP1):c.445del (p.Arg149fs) rs1441606629
NM_003978.5(PSTPIP1):c.446G>A (p.Arg149Gln) rs1141042
NM_003978.5(PSTPIP1):c.451G>A (p.Ala151Thr) rs1141043
NM_003978.5(PSTPIP1):c.452C>G (p.Ala151Gly) rs1160921792
NM_003978.5(PSTPIP1):c.457G>A (p.Asp153Asn)
NM_003978.5(PSTPIP1):c.460G>T (p.Ala154Ser) rs781516273
NM_003978.5(PSTPIP1):c.469G>A (p.Ala157Thr) rs2076342688
NM_003978.5(PSTPIP1):c.469G>T (p.Ala157Ser) rs2076342688
NM_003978.5(PSTPIP1):c.470C>A (p.Ala157Asp) rs2076342762
NM_003978.5(PSTPIP1):c.481A>C (p.Ile161Leu)
NM_003978.5(PSTPIP1):c.484A>T (p.Ser162Cys)
NM_003978.5(PSTPIP1):c.492C>G (p.Asn164Lys)
NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile) rs1235260030
NM_003978.5(PSTPIP1):c.532A>G (p.Arg178Gly)
NM_003978.5(PSTPIP1):c.535C>T (p.Gln179Ter) rs867813339
NM_003978.5(PSTPIP1):c.539G>A (p.Cys180Tyr) rs1337020537
NM_003978.5(PSTPIP1):c.563-9C>A
NM_003978.5(PSTPIP1):c.572A>G (p.Tyr191Cys)
NM_003978.5(PSTPIP1):c.579G>T (p.Gln193His) rs2076388885
NM_003978.5(PSTPIP1):c.587C>A (p.Ala196Glu)
NM_003978.5(PSTPIP1):c.58A>C (p.Thr20Pro)
NM_003978.5(PSTPIP1):c.595G>A (p.Glu199Lys) rs1430542503
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554
NM_003978.5(PSTPIP1):c.602T>C (p.Val201Ala)
NM_003978.5(PSTPIP1):c.607G>A (p.Ala203Thr) rs768226088
NM_003978.5(PSTPIP1):c.613T>C (p.Trp205Arg)
NM_003978.5(PSTPIP1):c.629G>C (p.Arg210Pro) rs776576205
NM_003978.5(PSTPIP1):c.62_63delinsAA (p.Gly21Glu) rs2152678736
NM_003978.5(PSTPIP1):c.639T>A (p.Cys213Ter) rs2076390490
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp) rs574957138
NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer) rs1596123288
NM_003978.5(PSTPIP1):c.676A>G (p.Ile226Val) rs2076408341
NM_003978.5(PSTPIP1):c.679C>T (p.Leu227Phe)
NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)
NM_003978.5(PSTPIP1):c.683G>T (p.Arg228Leu) rs1386762740
NM_003978.5(PSTPIP1):c.684C>T (p.Arg228=) rs2076408513
NM_003978.5(PSTPIP1):c.700C>T (p.His234Tyr)
NM_003978.5(PSTPIP1):c.708C>A (p.Asn236Lys) rs768887430
NM_003978.5(PSTPIP1):c.709C>A (p.Gln237Lys)
NM_003978.5(PSTPIP1):c.718A>C (p.Met240Leu) rs1350794252
NM_003978.5(PSTPIP1):c.741+12G>C
NM_003978.5(PSTPIP1):c.742-3C>T
NM_003978.5(PSTPIP1):c.74T>C (p.Leu25Pro)
NM_003978.5(PSTPIP1):c.755T>C (p.Val252Ala) rs970904080
NM_003978.5(PSTPIP1):c.757C>T (p.Arg253Trp) rs375155007
NM_003978.5(PSTPIP1):c.770A>G (p.Glu257Gly) rs2152689087
NM_003978.5(PSTPIP1):c.778A>G (p.Ser260Gly)
NM_003978.5(PSTPIP1):c.787G>A (p.Ala263Thr)
NM_003978.5(PSTPIP1):c.790G>A (p.Asp264Asn)
NM_003978.5(PSTPIP1):c.793A>G (p.Ile265Val) rs1266616711
NM_003978.5(PSTPIP1):c.797A>C (p.Asp266Ala)
NM_003978.5(PSTPIP1):c.806T>A (p.Ile269Asn) rs770215969
NM_003978.5(PSTPIP1):c.815A>G (p.Lys272Arg) rs767248102
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met) rs2076440871
NM_003978.5(PSTPIP1):c.825C>T (p.Gly275=) rs1596127270
NM_003978.5(PSTPIP1):c.837C>A (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+6G>T
NM_003978.5(PSTPIP1):c.838G>T (p.Ala280Ser)
NM_003978.5(PSTPIP1):c.839-1G>T rs2076455169
NM_003978.5(PSTPIP1):c.839-2A>G
NM_003978.5(PSTPIP1):c.842C>T (p.Pro281Leu)
NM_003978.5(PSTPIP1):c.843G>A (p.Pro281=)
NM_003978.5(PSTPIP1):c.854_879del (p.Gln285fs) rs2152689594
NM_003978.5(PSTPIP1):c.864C>A (p.Tyr288Ter)
NM_003978.5(PSTPIP1):c.865G>A (p.Asp289Asn)
NM_003978.5(PSTPIP1):c.868C>T (p.Arg290Trp)
NM_003978.5(PSTPIP1):c.869G>A (p.Arg290Gln) rs761580488
NM_003978.5(PSTPIP1):c.869G>T (p.Arg290Leu) rs761580488
NM_003978.5(PSTPIP1):c.874G>T (p.Val292Phe)
NM_003978.5(PSTPIP1):c.875T>C (p.Val292Ala)
NM_003978.5(PSTPIP1):c.905A>G (p.Gln302Arg)
NM_003978.5(PSTPIP1):c.914G>C (p.Cys305Ser)
NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser) rs374204996
NM_003978.5(PSTPIP1):c.947A>G (p.His316Arg)
NM_003978.5(PSTPIP1):c.94G>A (p.Gly32Ser)
NM_003978.5(PSTPIP1):c.951_954dup (p.Pro319fs)
NM_003978.5(PSTPIP1):c.962C>T (p.Thr321Ile)
NM_003978.5(PSTPIP1):c.985+12C>G
NM_003978.5(PSTPIP1):c.985+6G>A
NM_003978.5(PSTPIP1):c.985+7G>A
NM_003978.5(PSTPIP1):c.993A>G (p.Thr331=)
NM_003978.5(PSTPIP1):c.995A>T (p.Glu332Val)

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