ClinVar Miner

List of variants in gene PSTPIP1 reported as likely benign for not provided

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.742-266G>A rs116894585 0.03658
NM_003978.5(PSTPIP1):c.417+62G>C rs72643467 0.01430
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_003978.5(PSTPIP1):c.642+256G>A rs113599218 0.01293
NM_003978.5(PSTPIP1):c.562+141C>T rs116142711 0.01153
NM_003978.5(PSTPIP1):c.417+156C>T rs113421352 0.01064
NM_003978.5(PSTPIP1):c.642+64C>T rs79985146 0.01040
NM_003978.5(PSTPIP1):c.517-149G>T rs115670384 0.00991
NM_003978.5(PSTPIP1):c.643-128T>C rs114248616 0.00945
NM_003978.5(PSTPIP1):c.563-252A>G rs112105697 0.00940
NM_003978.5(PSTPIP1):c.212+248T>C rs112070036 0.00899
NM_003978.5(PSTPIP1):c.36+147G>T rs112875317 0.00899
NM_003978.5(PSTPIP1):c.37-200A>C rs113013219 0.00892
NM_003978.5(PSTPIP1):c.36+131A>G rs74569844 0.00789
NM_003978.5(PSTPIP1):c.838+124G>A rs186871734 0.00585
NM_003978.5(PSTPIP1):c.138-83A>T rs3812913 0.00535
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_003978.5(PSTPIP1):c.643-154C>T rs142149106 0.00463
NM_003978.5(PSTPIP1):c.929+108C>G rs181432186 0.00426
NM_003978.5(PSTPIP1):c.*286T>C rs79947875 0.00409
NM_003978.5(PSTPIP1):c.986-63G>A rs114366335 0.00398
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) rs145239831 0.00173
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_003978.5(PSTPIP1):c.838+82G>A rs56266471 0.00099
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
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.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.1045G>A (p.Ala349Thr) rs187211142 0.00008
NM_003978.5(PSTPIP1):c.1093C>T (p.Arg365Trp) rs748306987 0.00004
NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln) rs372461120 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=) rs1224633016 0.00002
NM_003978.5(PSTPIP1):c.37-5C>T rs879254119 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_001321137.1(PSTPIP1):c.26+155C>T rs115845814
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433
NM_003978.5(PSTPIP1):c.138-5dup rs755268431
NM_003978.5(PSTPIP1):c.36+15T>C rs752123803
NM_003978.5(PSTPIP1):c.36+201G>T rs114245955
NM_003978.5(PSTPIP1):c.417+176G>T rs148152818
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=) rs879254120
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_003978.5(PSTPIP1):c.813C>T (p.Ala271=) rs1596127197
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.912C>A (p.Ser304=) rs1181224630
NM_003978.5(PSTPIP1):c.929+9C>G rs1284155822
NM_003978.5(PSTPIP1):c.930-295C>T rs114457774

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