ClinVar Miner

List of variants in gene PSTPIP1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_003978.4(PSTPIP1):c.517_518delAG (p.Gln174Glufs) rs878855322
NM_003978.5(PSTPIP1):c.-16C>T rs372407300
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216
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.1120-44_1120-31del rs201788590
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=) rs199804922
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424
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.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947
NM_003978.5(PSTPIP1):c.137+57G>A rs3812912
NM_003978.5(PSTPIP1):c.138-5dup rs755268431
NM_003978.5(PSTPIP1):c.138-6T>C rs765550656
NM_003978.5(PSTPIP1):c.138-8T>C rs1057523945
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938
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+248T>C rs112070036
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087
NM_003978.5(PSTPIP1):c.248-66G>A rs55775608
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407
NM_003978.5(PSTPIP1):c.354+185C>T rs11636266
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289
NM_003978.5(PSTPIP1):c.36+147G>T rs112875317
NM_003978.5(PSTPIP1):c.36+15T>C rs752123803
NM_003978.5(PSTPIP1):c.37-200A>C rs113013219
NM_003978.5(PSTPIP1):c.37-5C>T rs879254119
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040
NM_003978.5(PSTPIP1):c.417+156C>T rs113421352
NM_003978.5(PSTPIP1):c.417+176G>T rs148152818
NM_003978.5(PSTPIP1):c.417+207_417+208del rs3841234
NM_003978.5(PSTPIP1):c.417+232G>C rs3812915
NM_003978.5(PSTPIP1):c.418-18G>A rs1281406107
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073
NM_003978.5(PSTPIP1):c.516+160G>A rs80152051
NM_003978.5(PSTPIP1):c.516+177A>G rs56103874
NM_003978.5(PSTPIP1):c.517-149G>T rs115670384
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=) rs879254120
NM_003978.5(PSTPIP1):c.563-252A>G rs112105697
NM_003978.5(PSTPIP1):c.563-82G>A rs10152353
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.564G>A (p.Glu188=) rs879253893
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498
NM_003978.5(PSTPIP1):c.642+64C>T rs79985146
NM_003978.5(PSTPIP1):c.643-128T>C rs114248616
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.675C>T (p.Thr225=) rs770958110
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.741+273C>T rs79732372
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.764C>T (p.Thr255Met) rs766895096
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=) rs1224633016
NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) rs145239831
NM_003978.5(PSTPIP1):c.813C>T (p.Ala271=) rs1596127197
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325
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+10G>A rs747042572
NM_003978.5(PSTPIP1):c.838+145A>G rs4078354
NM_003978.5(PSTPIP1):c.838+17G>C rs371715620
NM_003978.5(PSTPIP1):c.838+31C>G rs545108125
NM_003978.5(PSTPIP1):c.838+82G>A rs56266471
NM_003978.5(PSTPIP1):c.839-12dup rs759640462
NM_003978.5(PSTPIP1):c.839-4G>A rs1367241638
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val) rs139351566
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961
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.912C>A (p.Ser304=) rs1181224630
NM_003978.5(PSTPIP1):c.929+17C>T rs372335370
NM_003978.5(PSTPIP1):c.930-278T>C rs9806416
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419

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