ClinVar Miner

List of variants in gene PSTPIP1 studied for not provided

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Total variants: 58
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HGVS dbSNP
GRCh37/hg19 15q24.3(chr15:77328269-77332606)x0
NM_003978.4(PSTPIP1):c.517_518delAG (p.Gln174Glufs) rs878855322
NM_003978.5(PSTPIP1):c.-123G>A
NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr) rs1309288797
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483
NM_003978.5(PSTPIP1):c.1119+3_1119+6dup rs1596141513
NM_003978.5(PSTPIP1):c.1120-44_1120-31del rs201788590
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.1145C>T (p.Ala382Val) rs202205180
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322
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.1242G>A (p.Glu414=) rs1158206044
NM_003978.5(PSTPIP1):c.137+57G>A rs3812912
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938
NM_003978.5(PSTPIP1):c.212+248T>C rs112070036
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.248-66G>A rs55775608
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688
NM_003978.5(PSTPIP1):c.330G>C (p.Glu110Asp)
NM_003978.5(PSTPIP1):c.354+185C>T rs11636266
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.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.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.563-252A>G rs112105697
NM_003978.5(PSTPIP1):c.563-82G>A rs10152353
NM_003978.5(PSTPIP1):c.642+64C>T rs79985146
NM_003978.5(PSTPIP1):c.643-128T>C rs114248616
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.741+273C>T rs79732372
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.787_788del (p.Ala263fs) rs1064797201
NM_003978.5(PSTPIP1):c.7C>T (p.Pro3Ser) rs1057519224
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.838+145A>G rs4078354
NM_003978.5(PSTPIP1):c.838+82G>A rs56266471
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val) rs139351566
NM_003978.5(PSTPIP1):c.846G>A (p.Val282=) rs1596129223
NM_003978.5(PSTPIP1):c.912C>A (p.Ser304=) rs1181224630
NM_003978.5(PSTPIP1):c.929+9C>G rs1284155822
NM_003978.5(PSTPIP1):c.930-278T>C rs9806416
NM_003978.5(PSTPIP1):c.948C>T (p.His316=) rs1386946850

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