ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
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.1115C>T (p.Ala372Val) rs200188483
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757
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.146C>T (p.Ala49Val) rs756426938
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063
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.669del (p.Arg223_Leu224insTer) rs1596123288
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys) rs1283948312
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser) rs774891463

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