ClinVar Miner

List of variants in gene PSTPIP1 reported as likely benign for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NM_003978.5(PSTPIP1):c.-123G>A
NM_003978.5(PSTPIP1):c.-124C>T rs760819203
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637
NM_003978.5(PSTPIP1):c.1018C>T (p.Arg340Trp)
NM_003978.5(PSTPIP1):c.1032C>T (p.Val344=)
NM_003978.5(PSTPIP1):c.1044C>T (p.Ile348=)
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216
NM_003978.5(PSTPIP1):c.1074C>T (p.Ala358=)
NM_003978.5(PSTPIP1):c.1104C>T (p.Tyr368=)
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107
NM_003978.5(PSTPIP1):c.1119+3_1119+6dup rs1596141513
NM_003978.5(PSTPIP1):c.1138C>T (p.Leu380=)
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
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.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.1182T>C (p.Asp394=) rs199804922
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322
NM_003978.5(PSTPIP1):c.1215T>A (p.Arg405=) rs887633148
NM_003978.5(PSTPIP1):c.1221C>T (p.Phe407=) rs200363654
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.1248T>C (p.Leu416=) rs556322755
NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=) rs563906441
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=) rs1435290161
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
NM_003978.5(PSTPIP1):c.248-5C>T rs1266014755
NM_003978.5(PSTPIP1):c.255G>A (p.Glu85=)
NM_003978.5(PSTPIP1):c.304C>T (p.Leu102=) rs1401702747
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407
NM_003978.5(PSTPIP1):c.354+20C>A
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289
NM_003978.5(PSTPIP1):c.363C>T (p.Ala121=)
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109
NM_003978.5(PSTPIP1):c.417+7G>A
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379
NM_003978.5(PSTPIP1):c.418-5C>T
NM_003978.5(PSTPIP1):c.418-9C>A
NM_003978.5(PSTPIP1):c.426G>A (p.Lys142=)
NM_003978.5(PSTPIP1):c.432C>T (p.Tyr144=)
NM_003978.5(PSTPIP1):c.516+3G>A
NM_003978.5(PSTPIP1):c.517-4T>C
NM_003978.5(PSTPIP1):c.531C>T (p.Ala177=)
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=)
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys)
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.60G>C (p.Thr20=)
NM_003978.5(PSTPIP1):c.621G>A (p.Gln207=)
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205
NM_003978.5(PSTPIP1):c.643-13C>A rs200459219
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.66C>T (p.Tyr22=)
NM_003978.5(PSTPIP1):c.675C>A (p.Thr225=)
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=) rs374055726
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616
NM_003978.5(PSTPIP1):c.774C>G (p.Gly258=)
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=)
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.822G>A (p.Thr274=)
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572
NM_003978.5(PSTPIP1):c.838+16C>T
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164
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.882G>A (p.Pro294=) rs200796501
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500
NM_003978.5(PSTPIP1):c.929+18G>A rs773172907
NM_003978.5(PSTPIP1):c.948C>T (p.His316=) rs1386946850
NM_003978.5(PSTPIP1):c.957C>G (p.Pro319=)
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.