ClinVar Miner

List of variants in gene PSTPIP1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
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.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
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.203C>T (p.Thr68Met) rs201872851
NM_003978.5(PSTPIP1):c.212+248T>C rs112070036
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
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.417+156C>T rs113421352
NM_003978.5(PSTPIP1):c.417+176G>T rs148152818
NM_003978.5(PSTPIP1):c.418-18G>A rs1281406107
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073
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.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.564G>A (p.Glu188=) rs879253893
NM_003978.5(PSTPIP1):c.642+64C>T rs79985146
NM_003978.5(PSTPIP1):c.643-128T>C rs114248616
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.792C>T (p.Asp264=) rs1224633016
NM_003978.5(PSTPIP1):c.813C>T (p.Ala271=) rs1596127197
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572
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.882G>A (p.Pro294=) rs200796501
NM_003978.5(PSTPIP1):c.912C>A (p.Ser304=) rs1181224630

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