ClinVar Miner

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

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_003978.5(PSTPIP1):c.-123G>A
NM_003978.5(PSTPIP1):c.-124C>T rs760819203
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.1151A>G (p.Asp384Gly) rs200771233
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=) rs766141606
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
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.555C>T (p.Thr185=) rs370782742
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_003978.5(PSTPIP1):c.838+16C>T
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.929+18G>A rs773172907
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170

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