ClinVar Miner

List of variants in gene PSTPIP1 reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480 0.04154
NM_003978.5(PSTPIP1):c.*51G>A rs117378779 0.01876
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01310
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914 0.00534
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_003978.5(PSTPIP1):c.*38T>C rs201535027 0.00346
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00327
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424 0.00288
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00271
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00269
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00259
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00215
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419 0.00191
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00078
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330 0.00054
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00049
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00042
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.*145C>T rs965236443 0.00031
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00027
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1145C>T (p.Ala382Val) rs202205180 0.00022
NM_003978.5(PSTPIP1):c.*121C>T rs566906535 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_003978.5(PSTPIP1):c.-117C>T rs147120980 0.00013
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_003978.5(PSTPIP1):c.*122G>A rs527679453 0.00011
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.-124C>T rs760819203 0.00008
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688 0.00007
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433 0.00005
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His) rs772315853 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln) rs886051493 0.00001
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys) rs760587319 0.00001
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205 0.00001
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp) rs574957138 0.00001
NM_003978.5(PSTPIP1):c.795C>T (p.Ile265=) rs368528834 0.00001
NM_003978.5(PSTPIP1):c.*123T>C rs886051494
NM_003978.5(PSTPIP1):c.*156_*158del rs147238110
NM_003978.5(PSTPIP1):c.*93C>T rs554408944
NM_003978.5(PSTPIP1):c.*98C>G rs1264249832
NM_003978.5(PSTPIP1):c.-171A>T rs546291000
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu) rs768897476
NM_003978.5(PSTPIP1):c.1119+5G>C rs756068066
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.1243A>C (p.Lys415Gln) rs2076601376
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107
NM_003978.5(PSTPIP1):c.418-4_418-3del rs749862420
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) rs139362350
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362

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