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: 24
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) rs370965231 0.00022
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) rs771232034 0.00005
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser) rs774891463 0.00004
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp) rs375063664 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys) rs1283948312 0.00001
NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu) rs755840747
NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro) rs749462900
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.212+1G>A rs2152679042
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.38_39delinsTT (p.Cys13Phe) rs2152678700
NM_003978.5(PSTPIP1):c.438G>A (p.Gln146=) rs1141041
NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer) rs1596123288

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