ClinVar Miner

List of variants reported as likely benign for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 214
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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.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=) rs374055726 0.00024
NM_003978.5(PSTPIP1):c.1145C>T (p.Ala382Val) rs202205180 0.00022
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
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.1120-20G>A rs200256020 0.00010
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.1018C>T (p.Arg340Trp) rs377214787 0.00009
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=) rs199804922 0.00009
NM_003978.5(PSTPIP1):c.429A>T (p.Thr143=) rs1141040 0.00009
NM_003978.5(PSTPIP1):c.517-4T>C rs571529866 0.00009
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr) rs541085532 0.00009
NM_003978.5(PSTPIP1):c.930-14C>T rs200876675 0.00009
NM_003978.5(PSTPIP1):c.1161G>A (p.Glu387=) rs138056015 0.00007
NM_003978.5(PSTPIP1):c.1120-12T>C rs1177446255 0.00006
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.838+16C>T rs781423711 0.00006
NM_003978.5(PSTPIP1):c.1104C>T (p.Tyr368=) rs368373680 0.00005
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947 0.00005
NM_003978.5(PSTPIP1):c.212+13G>A rs375295026 0.00005
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_003978.5(PSTPIP1):c.1044C>T (p.Ile348=) rs370740664 0.00004
NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=) rs563906441 0.00004
NM_003978.5(PSTPIP1):c.213-16C>A rs369508601 0.00004
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=) rs368685017 0.00004
NM_003978.5(PSTPIP1):c.1158G>A (p.Leu386=) rs752462668 0.00003
NM_003978.5(PSTPIP1):c.355-17C>T rs886038536 0.00003
NM_003978.5(PSTPIP1):c.418-9C>A rs763395091 0.00003
NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=) rs927470089 0.00003
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616 0.00003
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=) rs201770311 0.00003
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=) rs763986763 0.00003
NM_003978.5(PSTPIP1):c.1062G>A (p.Gln354=) rs757597315 0.00002
NM_003978.5(PSTPIP1):c.1071G>A (p.Pro357=) rs367643394 0.00002
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011 0.00002
NM_003978.5(PSTPIP1):c.477G>A (p.Glu159=) rs780297337 0.00002
NM_003978.5(PSTPIP1):c.516+3G>A rs764658426 0.00002
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=) rs554161203 0.00002
NM_003978.5(PSTPIP1):c.643-13C>A rs200459219 0.00002
NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=) rs373516507 0.00002
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=) rs1224633016 0.00002
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164 0.00002
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=) rs750823506 0.00002
NM_003978.5(PSTPIP1):c.1056G>A (p.Glu352=) rs1469732250 0.00001
NM_003978.5(PSTPIP1):c.1138C>T (p.Leu380=) rs1316450945 0.00001
NM_003978.5(PSTPIP1):c.1176G>A (p.Gly392=) rs181929438 0.00001
NM_003978.5(PSTPIP1):c.1179G>A (p.Glu393=) rs1355605205 0.00001
NM_003978.5(PSTPIP1):c.1218C>T (p.Gly406=) rs377114025 0.00001
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=) rs766141606 0.00001
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_003978.5(PSTPIP1):c.138-6T>C rs765550656 0.00001
NM_003978.5(PSTPIP1):c.213-10T>C rs746522552 0.00001
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=) rs1435290161 0.00001
NM_003978.5(PSTPIP1):c.248-5C>T rs1266014755 0.00001
NM_003978.5(PSTPIP1):c.304C>T (p.Leu102=) rs1401702747 0.00001
NM_003978.5(PSTPIP1):c.363C>T (p.Ala121=) rs1484169330 0.00001
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109 0.00001
NM_003978.5(PSTPIP1):c.426G>A (p.Lys142=) rs760205701 0.00001
NM_003978.5(PSTPIP1):c.432C>T (p.Tyr144=) rs370003508 0.00001
NM_003978.5(PSTPIP1):c.450C>T (p.Asp150=) rs758334058 0.00001
NM_003978.5(PSTPIP1):c.516+13G>T rs762824136 0.00001
NM_003978.5(PSTPIP1):c.563-18G>A rs748783442 0.00001
NM_003978.5(PSTPIP1):c.576G>A (p.Arg192=) rs766707210 0.00001
NM_003978.5(PSTPIP1):c.588G>A (p.Ala196=) rs558627384 0.00001
NM_003978.5(PSTPIP1):c.642+13C>T rs752786501 0.00001
NM_003978.5(PSTPIP1):c.642+20C>T rs201638707 0.00001
NM_003978.5(PSTPIP1):c.648T>C (p.Phe216=) rs763249966 0.00001
NM_003978.5(PSTPIP1):c.675C>T (p.Thr225=) rs770958110 0.00001
NM_003978.5(PSTPIP1):c.708C>T (p.Asn236=) rs768887430 0.00001
NM_003978.5(PSTPIP1):c.774C>G (p.Gly258=) rs2076438231 0.00001
NM_003978.5(PSTPIP1):c.795C>T (p.Ile265=) rs368528834 0.00001
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572 0.00001
NM_003978.5(PSTPIP1):c.839-16G>T rs776337082 0.00001
NM_003978.5(PSTPIP1):c.929+10C>T rs774212289 0.00001
NM_003978.5(PSTPIP1):c.929+18G>A rs773172907 0.00001
NM_003978.5(PSTPIP1):c.948C>T (p.His316=) rs1386946850 0.00001
NM_003978.5(PSTPIP1):c.954T>C (p.Ser318=) rs202234078 0.00001
NM_003978.5(PSTPIP1):c.985+18G>A rs1404451877 0.00001
NM_003978.5(PSTPIP1):c.1002G>A (p.Leu334=)
NM_003978.5(PSTPIP1):c.1032C>T (p.Val344=) rs1568527489
NM_003978.5(PSTPIP1):c.1037C>A (p.Thr346Lys)
NM_003978.5(PSTPIP1):c.1047A>T (p.Ala349=)
NM_003978.5(PSTPIP1):c.1053G>A (p.Gln351=)
NM_003978.5(PSTPIP1):c.1074C>T (p.Ala358=) rs2076557282
NM_003978.5(PSTPIP1):c.1119+15C>G rs755168700
NM_003978.5(PSTPIP1):c.1119+15C>T
NM_003978.5(PSTPIP1):c.1119+17_1119+36del
NM_003978.5(PSTPIP1):c.1119+3_1119+6dup rs1596141513
NM_003978.5(PSTPIP1):c.1120-11del rs1231169202
NM_003978.5(PSTPIP1):c.1120-4C>T
NM_003978.5(PSTPIP1):c.1137C>T (p.Asp379=)
NM_003978.5(PSTPIP1):c.1146G>C (p.Ala382=)
NM_003978.5(PSTPIP1):c.1170G>A (p.Leu390=)
NM_003978.5(PSTPIP1):c.1215T>A (p.Arg405=) rs887633148
NM_003978.5(PSTPIP1):c.1221C>T (p.Phe407=) rs200363654
NM_003978.5(PSTPIP1):c.1242G>A (p.Glu414=) rs1158206044
NM_003978.5(PSTPIP1):c.135G>A (p.Gln45=)
NM_003978.5(PSTPIP1):c.137+12G>T
NM_003978.5(PSTPIP1):c.138-14C>T
NM_003978.5(PSTPIP1):c.138-15C>T
NM_003978.5(PSTPIP1):c.15G>A (p.Leu5=)
NM_003978.5(PSTPIP1):c.162G>A (p.Gly54=)
NM_003978.5(PSTPIP1):c.165G>A (p.Lys55=)
NM_003978.5(PSTPIP1):c.168G>A (p.Glu56=)
NM_003978.5(PSTPIP1):c.174G>A (p.Val58=)
NM_003978.5(PSTPIP1):c.180C>T (p.Ile60=)
NM_003978.5(PSTPIP1):c.189G>A (p.Lys63=)
NM_003978.5(PSTPIP1):c.201G>A (p.Gln67=)
NM_003978.5(PSTPIP1):c.212+17C>T
NM_003978.5(PSTPIP1):c.212+18C>T
NM_003978.5(PSTPIP1):c.212+20G>A
NM_003978.5(PSTPIP1):c.212+8C>A
NM_003978.5(PSTPIP1):c.212+9T>A
NM_003978.5(PSTPIP1):c.213-10T>G rs746522552
NM_003978.5(PSTPIP1):c.213-13A>G
NM_003978.5(PSTPIP1):c.213-16C>T
NM_003978.5(PSTPIP1):c.225C>T (p.Ala75=)
NM_003978.5(PSTPIP1):c.228C>T (p.Ser76=)
NM_003978.5(PSTPIP1):c.247+14C>T
NM_003978.5(PSTPIP1):c.247+7C>A
NM_003978.5(PSTPIP1):c.247+9C>T
NM_003978.5(PSTPIP1):c.255G>A (p.Glu85=) rs1014025734
NM_003978.5(PSTPIP1):c.280C>T (p.Leu94=)
NM_003978.5(PSTPIP1):c.315C>T (p.Leu105=)
NM_003978.5(PSTPIP1):c.342G>A (p.Glu114=) rs1431414496
NM_003978.5(PSTPIP1):c.354+12G>T
NM_003978.5(PSTPIP1):c.354+13C>T rs1207783811
NM_003978.5(PSTPIP1):c.354+17G>A
NM_003978.5(PSTPIP1):c.354+20C>A rs184279306
NM_003978.5(PSTPIP1):c.355-11G>T
NM_003978.5(PSTPIP1):c.355-14C>T
NM_003978.5(PSTPIP1):c.355-8C>T
NM_003978.5(PSTPIP1):c.36+15T>C rs752123803
NM_003978.5(PSTPIP1):c.36+19_36+22dup
NM_003978.5(PSTPIP1):c.37-17_37-15del
NM_003978.5(PSTPIP1):c.373C>A (p.Arg125=) rs750160336
NM_003978.5(PSTPIP1):c.417+10A>C rs758258744
NM_003978.5(PSTPIP1):c.417+10A>G
NM_003978.5(PSTPIP1):c.417+7G>A rs1035113783
NM_003978.5(PSTPIP1):c.418-11_418-9dup
NM_003978.5(PSTPIP1):c.418-13T>C
NM_003978.5(PSTPIP1):c.418-5C>T rs2152685978
NM_003978.5(PSTPIP1):c.420C>T (p.Ser140=)
NM_003978.5(PSTPIP1):c.445C>A (p.Arg149=)
NM_003978.5(PSTPIP1):c.456C>T (p.Asp152=)
NM_003978.5(PSTPIP1):c.45C>T (p.Asp15=)
NM_003978.5(PSTPIP1):c.462G>A (p.Ala154=)
NM_003978.5(PSTPIP1):c.474C>T (p.Phe158=)
NM_003978.5(PSTPIP1):c.492C>T (p.Asn164=)
NM_003978.5(PSTPIP1):c.516+10G>C
NM_003978.5(PSTPIP1):c.516+14_516+40del rs2152686129
NM_003978.5(PSTPIP1):c.516+20C>A
NM_003978.5(PSTPIP1):c.516+8G>A
NM_003978.5(PSTPIP1):c.517-12_517-11del rs778522775
NM_003978.5(PSTPIP1):c.517-16C>T
NM_003978.5(PSTPIP1):c.517-20C>T
NM_003978.5(PSTPIP1):c.528A>G (p.Lys176=)
NM_003978.5(PSTPIP1):c.531C>T (p.Ala177=) rs2152686764
NM_003978.5(PSTPIP1):c.54C>T (p.Ala18=)
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=) rs879254120
NM_003978.5(PSTPIP1):c.562+9G>A
NM_003978.5(PSTPIP1):c.563-14G>A
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.570A>G (p.Val190=) rs2152687500
NM_003978.5(PSTPIP1):c.573C>T (p.Tyr191=)
NM_003978.5(PSTPIP1):c.585T>C (p.Ile195=)
NM_003978.5(PSTPIP1):c.60G>A (p.Thr20=) rs572721166
NM_003978.5(PSTPIP1):c.60G>C (p.Thr20=) rs572721166
NM_003978.5(PSTPIP1):c.618G>A (p.Glu206=)
NM_003978.5(PSTPIP1):c.621G>A (p.Gln207=) rs2076390026
NM_003978.5(PSTPIP1):c.642+14G>A
NM_003978.5(PSTPIP1):c.642+18_642+19del
NM_003978.5(PSTPIP1):c.643-19T>A
NM_003978.5(PSTPIP1):c.645C>T (p.Ala215=)
NM_003978.5(PSTPIP1):c.654G>T (p.Leu218=) rs2152688153
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) rs139362350
NM_003978.5(PSTPIP1):c.675C>A (p.Thr225=) rs770958110
NM_003978.5(PSTPIP1):c.690C>T (p.Ala230=)
NM_003978.5(PSTPIP1):c.714C>A (p.Leu238=)
NM_003978.5(PSTPIP1):c.741+11A>C rs2152688261
NM_003978.5(PSTPIP1):c.741+12G>A rs370307155
NM_003978.5(PSTPIP1):c.741+15C>T
NM_003978.5(PSTPIP1):c.742-14C>T
NM_003978.5(PSTPIP1):c.742-6C>T
NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=) rs2152689079
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_003978.5(PSTPIP1):c.798C>T (p.Asp266=)
NM_003978.5(PSTPIP1):c.822G>A (p.Thr274=) rs760300353
NM_003978.5(PSTPIP1):c.822G>C (p.Thr274=)
NM_003978.5(PSTPIP1):c.82C>A (p.Arg28=) rs767330325
NM_003978.5(PSTPIP1):c.838+17G>A
NM_003978.5(PSTPIP1):c.838+20C>G
NM_003978.5(PSTPIP1):c.839-19C>A
NM_003978.5(PSTPIP1):c.839-8G>T
NM_003978.5(PSTPIP1):c.846G>A (p.Val282=) rs1596129223
NM_003978.5(PSTPIP1):c.852C>T (p.Tyr284=) rs1324002708
NM_003978.5(PSTPIP1):c.909G>A (p.Pro303=)
NM_003978.5(PSTPIP1):c.929+11G>A rs753081335
NM_003978.5(PSTPIP1):c.929+11G>C
NM_003978.5(PSTPIP1):c.929+13C>G
NM_003978.5(PSTPIP1):c.929+14A>T
NM_003978.5(PSTPIP1):c.930-10_930-9del
NM_003978.5(PSTPIP1):c.957C>G (p.Pro319=) rs2076539978
NM_003978.5(PSTPIP1):c.960G>A (p.Lys320=) rs2152691719
NM_003978.5(PSTPIP1):c.969G>A (p.Ser323=)
NM_003978.5(PSTPIP1):c.969G>T (p.Ser323=)
NM_003978.5(PSTPIP1):c.985+16A>C
NM_003978.5(PSTPIP1):c.985+16_985+18del rs2152691755
NM_003978.5(PSTPIP1):c.986-12C>T rs2152691941
NM_003978.5(PSTPIP1):c.986-5C>T
NM_003978.5(PSTPIP1):c.987G>C (p.Ala329=) rs750823506

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