ClinVar Miner

List of variants in gene PSTPIP1 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 61
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HGVS dbSNP
NM_003978.5(PSTPIP1):c.*156_*158del rs147238110
NM_003978.5(PSTPIP1):c.*38T>C rs201535027
NM_003978.5(PSTPIP1):c.*51G>A rs117378779
NM_003978.5(PSTPIP1):c.-123G>A
NM_003978.5(PSTPIP1):c.-124C>T rs760819203
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216
NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro) rs749462900
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044
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.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949
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.1146G>A (p.Ala382=) rs760234757
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233
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.123G>A (p.Glu41=) rs766141606
NM_003978.5(PSTPIP1):c.137+20del
NM_003978.5(PSTPIP1):c.137+28C>T rs79438763
NM_003978.5(PSTPIP1):c.137+47G>C rs3812911
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.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.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.354+20C>T rs184279306
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742
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.652C>T (p.Leu218=) rs35677716
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer) rs1596123288
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys) rs1283948312
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+145A>G rs4078354
NM_003978.5(PSTPIP1):c.838+16C>T
NM_003978.5(PSTPIP1):c.838+40T>C rs77968440
NM_003978.5(PSTPIP1):c.838+45C>G
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser) rs774891463
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=) rs763986763
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.929+18G>A rs773172907
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170

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