ClinVar Miner

List of variants in gene PSTPIP1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP
NC_000015.10:g.(?_77030482)_(77037196_?)dup
NC_000015.9:g.(?_77287895)_(77310892_?)dup
NC_000015.9:g.(?_77287895)_(77329537_?)dup
NC_000015.9:g.(?_77310868_77315342del
NC_000015.9:g.(?_77327829)_(77327924_?)del
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637
NM_003978.5(PSTPIP1):c.1015G>A (p.Glu339Lys) rs372468528
NM_003978.5(PSTPIP1):c.1018C>T (p.Arg340Trp)
NM_003978.5(PSTPIP1):c.1019G>A (p.Arg340Gln)
NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser) rs370404621
NM_003978.5(PSTPIP1):c.1032C>T (p.Val344=)
NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp)
NM_003978.5(PSTPIP1):c.1044C>T (p.Ile348=)
NM_003978.5(PSTPIP1):c.1045G>A (p.Ala349Thr)
NM_003978.5(PSTPIP1):c.1048G>A (p.Val350Met)
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216
NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys) rs781251437
NM_003978.5(PSTPIP1):c.1074C>T (p.Ala358=)
NM_003978.5(PSTPIP1):c.1086G>A (p.Gln362=) rs528187669
NM_003978.5(PSTPIP1):c.1093C>T (p.Arg365Trp)
NM_003978.5(PSTPIP1):c.1097C>T (p.Ala366Val)
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044
NM_003978.5(PSTPIP1):c.1104C>A (p.Tyr368Ter)
NM_003978.5(PSTPIP1):c.1104C>T (p.Tyr368=)
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn)
NM_003978.5(PSTPIP1):c.1110T>A (p.Tyr370Ter)
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681
NM_003978.5(PSTPIP1):c.1119+3_1119+6dup rs1596141513
NM_003978.5(PSTPIP1):c.1119+5G>A rs756068066
NM_003978.5(PSTPIP1):c.1119+5G>C
NM_003978.5(PSTPIP1):c.1120-9C>G rs747139033
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949
NM_003978.5(PSTPIP1):c.1138C>T (p.Leu380=)
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1144G>C (p.Ala382Pro) rs145344175
NM_003978.5(PSTPIP1):c.1145C>A (p.Ala382Glu)
NM_003978.5(PSTPIP1):c.1145C>T (p.Ala382Val) rs202205180
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233
NM_003978.5(PSTPIP1):c.1158G>A (p.Leu386=) rs752462668
NM_003978.5(PSTPIP1):c.1176G>A (p.Gly392=) rs181929438
NM_003978.5(PSTPIP1):c.1179G>A (p.Glu393=)
NM_003978.5(PSTPIP1):c.1180G>A (p.Asp394Asn)
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=) rs199804922
NM_003978.5(PSTPIP1):c.1183G>A (p.Gly395Ser)
NM_003978.5(PSTPIP1):c.1184G>A (p.Gly395Asp)
NM_003978.5(PSTPIP1):c.1196T>C (p.Val399Ala)
NM_003978.5(PSTPIP1):c.1201A>G (p.Arg401Gly)
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424
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.1208G>A (p.Gly403Glu) rs201572812
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322
NM_003978.5(PSTPIP1):c.1214G>A (p.Arg405His)
NM_003978.5(PSTPIP1):c.1215T>A (p.Arg405=) rs887633148
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1221C>T (p.Phe407=) rs200363654
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=) rs766141606
NM_003978.5(PSTPIP1):c.1242G>A (p.Glu414=) rs1158206044
NM_003978.5(PSTPIP1):c.1242G>C (p.Glu414Asp)
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738
NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=) rs563906441
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp)
NM_003978.5(PSTPIP1):c.185G>A (p.Arg62Gln)
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914
NM_003978.5(PSTPIP1):c.212+5G>A rs1280331114
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=) rs1435290161
NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu) rs199800583
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.247C>T (p.Gln83Ter)
NM_003978.5(PSTPIP1):c.248-5C>T rs1266014755
NM_003978.5(PSTPIP1):c.255G>A (p.Glu85=)
NM_003978.5(PSTPIP1):c.255G>C (p.Glu85Asp)
NM_003978.5(PSTPIP1):c.296G>T (p.Arg99Leu) rs371065077
NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val)
NM_003978.5(PSTPIP1):c.304C>G (p.Leu102Val)
NM_003978.5(PSTPIP1):c.304C>T (p.Leu102=) rs1401702747
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688
NM_003978.5(PSTPIP1):c.325C>T (p.Arg109Cys)
NM_003978.5(PSTPIP1):c.344A>C (p.Gln115Pro)
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407
NM_003978.5(PSTPIP1):c.354+20C>A
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306
NM_003978.5(PSTPIP1):c.363C>T (p.Ala121=)
NM_003978.5(PSTPIP1):c.376G>T (p.Val126Phe)
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109
NM_003978.5(PSTPIP1):c.39C>G (p.Cys13Trp)
NM_003978.5(PSTPIP1):c.417+6C>G
NM_003978.5(PSTPIP1):c.417+7G>A
NM_003978.5(PSTPIP1):c.418-5C>T
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722
NM_003978.5(PSTPIP1):c.418-9C>A
NM_003978.5(PSTPIP1):c.426G>A (p.Lys142=)
NM_003978.5(PSTPIP1):c.430T>G (p.Tyr144Asp) rs377240256
NM_003978.5(PSTPIP1):c.431A>T (p.Tyr144Phe)
NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter) rs370003508
NM_003978.5(PSTPIP1):c.432C>T (p.Tyr144=)
NM_003978.5(PSTPIP1):c.445del (p.Arg149fs) rs1441606629
NM_003978.5(PSTPIP1):c.454G>C (p.Asp152His) rs375932577
NM_003978.5(PSTPIP1):c.469G>A (p.Ala157Thr)
NM_003978.5(PSTPIP1):c.469G>T (p.Ala157Ser)
NM_003978.5(PSTPIP1):c.470C>A (p.Ala157Asp)
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser)
NM_003978.5(PSTPIP1):c.503A>G (p.Lys168Arg) rs770462479
NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile) rs1235260030
NM_003978.5(PSTPIP1):c.516+3G>A
NM_003978.5(PSTPIP1):c.516+4C>A
NM_003978.5(PSTPIP1):c.516+5G>A
NM_003978.5(PSTPIP1):c.516G>A (p.Lys172=)
NM_003978.5(PSTPIP1):c.517-4T>C
NM_003978.5(PSTPIP1):c.531C>T (p.Ala177=)
NM_003978.5(PSTPIP1):c.535C>T (p.Gln179Ter)
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478
NM_003978.5(PSTPIP1):c.548C>T (p.Ser183Leu) rs772549153
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=)
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.565C>T (p.Arg189Trp)
NM_003978.5(PSTPIP1):c.566G>A (p.Arg189Gln)
NM_003978.5(PSTPIP1):c.579G>T (p.Gln193His)
NM_003978.5(PSTPIP1):c.583A>T (p.Ile195Phe)
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) rs771232034
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) rs370965231
NM_003978.5(PSTPIP1):c.595G>A (p.Glu199Lys)
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr) rs541085532
NM_003978.5(PSTPIP1):c.604C>T (p.Arg202Trp) rs781549267
NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln)
NM_003978.5(PSTPIP1):c.607G>A (p.Ala203Thr)
NM_003978.5(PSTPIP1):c.60G>C (p.Thr20=)
NM_003978.5(PSTPIP1):c.621G>A (p.Gln207=)
NM_003978.5(PSTPIP1):c.628C>T (p.Arg210Trp)
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205
NM_003978.5(PSTPIP1):c.639T>A (p.Cys213Ter)
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498
NM_003978.5(PSTPIP1):c.643-13C>A rs200459219
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716
NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter) rs751668240
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) rs139362350
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp)
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464
NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=)
NM_003978.5(PSTPIP1):c.675C>A (p.Thr225=)
NM_003978.5(PSTPIP1):c.683G>T (p.Arg228Leu)
NM_003978.5(PSTPIP1):c.684C>T (p.Arg228=)
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=) rs374055726
NM_003978.5(PSTPIP1):c.702C>G (p.His234Gln)
NM_003978.5(PSTPIP1):c.708C>A (p.Asn236Lys)
NM_003978.5(PSTPIP1):c.718A>C (p.Met240Leu)
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.755T>C (p.Val252Ala)
NM_003978.5(PSTPIP1):c.757C>T (p.Arg253Trp)
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met) rs766895096
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327
NM_003978.5(PSTPIP1):c.774C>G (p.Gly258=)
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=)
NM_003978.5(PSTPIP1):c.793A>G (p.Ile265Val) rs1266616711
NM_003978.5(PSTPIP1):c.795C>T (p.Ile265=) rs368528834
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly) rs1333618864
NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) rs145239831
NM_003978.5(PSTPIP1):c.806T>A (p.Ile269Asn)
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met)
NM_003978.5(PSTPIP1):c.822G>A (p.Thr274=)
NM_003978.5(PSTPIP1):c.825C>T (p.Gly275=)
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325
NM_003978.5(PSTPIP1):c.831G>T (p.Glu277Asp)
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164
NM_003978.5(PSTPIP1):c.839-1G>T
NM_003978.5(PSTPIP1):c.846G>A (p.Val282=) rs1596129223
NM_003978.5(PSTPIP1):c.852C>T (p.Tyr284=)
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=) rs763986763
NM_003978.5(PSTPIP1):c.869G>A (p.Arg290Gln)
NM_003978.5(PSTPIP1):c.881C>T (p.Pro294Leu)
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480
NM_003978.5(PSTPIP1):c.924A>G (p.Ile308Met)
NM_003978.5(PSTPIP1):c.929+9C>G rs1284155822
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038
NM_003978.5(PSTPIP1):c.948C>T (p.His316=) rs1386946850
NM_003978.5(PSTPIP1):c.957C>G (p.Pro319=)
NM_003978.5(PSTPIP1):c.968C>T (p.Ser323Leu) rs765187272
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) rs369498554
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=)
NM_003978.5(PSTPIP1):c.994G>A (p.Glu332Lys)

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