ClinVar Miner

List of variants in gene PCNT reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile) rs745322520
NM_006031.6(PCNT):c.1224G>A (p.Leu408=) rs797045874
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588
NM_006031.6(PCNT):c.139G>C (p.Asp47His) rs112837071
NM_006031.6(PCNT):c.1457-5T>A rs769237607
NM_006031.6(PCNT):c.1457-9dup rs1486232846
NM_006031.6(PCNT):c.1463A>G (p.His488Arg) rs201966670
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser) rs371251124
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486
NM_006031.6(PCNT):c.1743C>T (p.Leu581=) rs375581809
NM_006031.6(PCNT):c.175G>A (p.Glu59Lys) rs797045876
NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln) rs747165033
NM_006031.6(PCNT):c.2154+7C>T rs376236418
NM_006031.6(PCNT):c.2154+8G>A rs778407564
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) rs776223654
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) rs758820636
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln) rs577883327
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.2834G>A (p.Arg945His) rs183691508
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn) rs146728385
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly) rs145451194
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile) rs777758638
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln) rs140003788
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro) rs778900170
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg) rs752738005
NM_006031.6(PCNT):c.3564G>T (p.Gly1188=) rs1555973364
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=) rs370240856
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro) rs1318648644
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His) rs775895650
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304
NM_006031.6(PCNT):c.4216+9C>T rs369876466
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn) rs765190339
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073
NM_006031.6(PCNT):c.442G>T (p.Val148Phe) rs201815546
NM_006031.6(PCNT):c.442_519del (p.Val148_Thr173del) rs1555945478
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4518C>G (p.Leu1506=) rs954455553
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys) rs763712724
NM_006031.6(PCNT):c.4563+9G>A rs750949882
NM_006031.6(PCNT):c.4625A>C (p.Glu1542Ala) rs797045877
NM_006031.6(PCNT):c.4687G>C (p.Glu1563Gln) rs746297554
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg) rs1555945637
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro) rs1296500904
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly) rs755909353
NM_006031.6(PCNT):c.4929G>C (p.Val1643=) rs569351854
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=) rs141860893
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309
NM_006031.6(PCNT):c.55-5C>T rs587784310
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met) rs775982969
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His) rs201536644
NM_006031.6(PCNT):c.5756T>C (p.Leu1919Pro) rs755667206
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761
NM_006031.6(PCNT):c.591C>G (p.Ile197Met) rs559031201
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) rs144445891
NM_006031.6(PCNT):c.6150+3G>A rs760779996
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745
NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg) rs749897159
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) rs755119869
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568
NM_006031.6(PCNT):c.7180-8C>T rs143511166
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys) rs778163048
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323
NM_006031.6(PCNT):c.7321-10C>T rs587784318
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.6(PCNT):c.7342G>A (p.Asp2448Asn) rs748347210
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr) rs1006896204
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) rs149779006
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile) rs797045880
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln) rs370021414
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val) rs150303409
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His) rs778334017
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr) rs987345147
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg) rs797045881
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) rs144963695
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro) rs1556003819
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu) rs797045882
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys) rs376696104
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322
NM_006031.6(PCNT):c.8997G>A (p.Arg2999=) rs1288558445
NM_006031.6(PCNT):c.9028A>G (p.Lys3010Glu) rs797045883
NM_006031.6(PCNT):c.9035T>C (p.Val3012Ala) rs557745291
NM_006031.6(PCNT):c.9051C>G (p.His3017Gln) rs1556004960
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) rs779546932
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) rs754586558
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu) rs797045884
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) rs775636867
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys) rs1007600831
NM_006031.6(PCNT):c.9393+8C>T rs750108017
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met) rs372895276
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) rs202170105
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) rs199737174
NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly) rs147637351
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro) rs752708321
NM_006031.6(PCNT):c.9968-3C>T rs182378192

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