ClinVar Miner

List of variants in gene PCNT reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795 0.00596
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533 0.00585
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229 0.00086
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323 0.00073
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711 0.00066
NM_006031.6(PCNT):c.6151-9C>T rs200571944 0.00059
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn) rs146728385 0.00056
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln) rs575720246 0.00045
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568 0.00032
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527 0.00031
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745 0.00029
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln) rs370021414 0.00024
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577 0.00021
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys) rs376696104 0.00019
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_006031.6(PCNT):c.6150+3G>A rs760779996 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006031.6(PCNT):c.4216+9C>T rs369876466 0.00014
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His) rs201536644 0.00014
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279 0.00014
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) rs149844283 0.00014
NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly) rs147637351 0.00014
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) rs199737174 0.00012
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 0.00011
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011 0.00011
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu) rs745598788 0.00009
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229 0.00009
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=) rs141860893 0.00009
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352 0.00009
NM_006031.6(PCNT):c.8537C>T (p.Thr2846Met) rs142800204 0.00009
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) rs779546932 0.00009
NM_006031.6(PCNT):c.5994+4G>A rs781737632 0.00008
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047 0.00008
NM_006031.6(PCNT):c.1463A>G (p.His488Arg) rs201966670 0.00007
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln) rs140003788 0.00007
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611 0.00007
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) rs754586558 0.00007
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met) rs372895276 0.00007
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486 0.00006
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) rs776223654 0.00006
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His) rs775895650 0.00006
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) rs755119869 0.00006
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val) rs150303409 0.00006
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091 0.00006
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) rs202170105 0.00006
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) rs144445891 0.00005
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588 0.00004
NM_006031.6(PCNT):c.1457-5T>A rs769237607 0.00004
NM_006031.6(PCNT):c.4423C>T (p.Arg1475Cys) rs778468425 0.00004
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly) rs755909353 0.00004
NM_006031.6(PCNT):c.591C>G (p.Ile197Met) rs559031201 0.00004
NM_006031.6(PCNT):c.6631C>T (p.Pro2211Ser) rs775124083 0.00004
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) rs368569999 0.00004
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys) rs1007600831 0.00004
NM_006031.6(PCNT):c.1224G>A (p.Leu408=) rs797045874 0.00003
NM_006031.6(PCNT):c.1743C>T (p.Leu581=) rs375581809 0.00003
NM_006031.6(PCNT):c.2154+8G>A rs778407564 0.00003
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417 0.00003
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro) rs778900170 0.00003
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=) rs370240856 0.00003
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741 0.00003
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys) rs778163048 0.00003
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697 0.00003
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) rs149779006 0.00003
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630 0.00003
NM_006031.6(PCNT):c.9035T>C (p.Val3012Ala) rs557745291 0.00003
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) rs775636867 0.00003
NM_006031.6(PCNT):c.1775G>A (p.Arg592His) rs754798472 0.00002
NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln) rs747165033 0.00002
NM_006031.6(PCNT):c.2602C>T (p.Arg868Trp) rs775482294 0.00002
NM_006031.6(PCNT):c.2681A>G (p.Gln894Arg) rs763483779 0.00002
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly) rs145451194 0.00002
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073 0.00002
NM_006031.6(PCNT):c.4929G>C (p.Val1643=) rs569351854 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=) rs541260181 0.00002
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His) rs778334017 0.00002
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg) rs797045881 0.00002
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile) rs745322520 0.00001
NM_006031.6(PCNT):c.1457-9dup rs1486232846 0.00001
NM_006031.6(PCNT):c.2272G>A (p.Glu758Lys) rs772683917 0.00001
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln) rs577883327 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.3715C>T (p.Arg1239Cys) rs777189669 0.00001
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn) rs765190339 0.00001
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys) rs763712724 0.00001
NM_006031.6(PCNT):c.4585-3T>C rs777059690 0.00001
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro) rs1296500904 0.00001
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167 0.00001
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met) rs775982969 0.00001
NM_006031.6(PCNT):c.5756T>C (p.Leu1919Pro) rs755667206 0.00001
NM_006031.6(PCNT):c.6281C>G (p.Thr2094Ser) rs1426784720 0.00001
NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg) rs749897159 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 0.00001
NM_006031.6(PCNT):c.7342G>A (p.Asp2448Asn) rs748347210 0.00001
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=) rs777255057 0.00001
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=) rs942925965 0.00001
GRCh37/hg19 21q22.3(chr21:47809383-47854022)x3
NM_006031.6(PCNT):c.1208-8C>G rs2146597883
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser) rs371251124
NM_006031.6(PCNT):c.1732G>A (p.Val578Ile) rs370083877
NM_006031.6(PCNT):c.1732G>T (p.Val578Phe) rs370083877
NM_006031.6(PCNT):c.175G>A (p.Glu59Lys) rs797045876
NM_006031.6(PCNT):c.1786G>A (p.Glu596Lys) rs2084438681
NM_006031.6(PCNT):c.2154+7C>T rs376236418
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) rs758820636
NM_006031.6(PCNT):c.268-5_268-3del rs751683541
NM_006031.6(PCNT):c.2834G>A (p.Arg945His) rs183691508
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile) rs777758638
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3223C>T (p.Leu1075Phe) rs2085550399
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.3682A>T (p.Met1228Leu) rs886057182
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro) rs1318648644
NM_006031.6(PCNT):c.4411G>C (p.Asp1471His) rs2147403017
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.4518C>G (p.Leu1506=) rs954455553
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.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5707_5708delinsTT (p.Arg1903Phe) rs2147674617
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5994+13dup rs772752236
NM_006031.6(PCNT):c.7128G>T (p.Gln2376His) rs2147851397
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr) rs1006896204
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile) rs797045880
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr) rs987345147
NM_006031.6(PCNT):c.8731C>T (p.Gln2911Ter) rs898659540
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro) rs1556003819
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu) rs797045882
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
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.9051C>G (p.His3017Gln) rs1556004960
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu) rs797045884
NM_006031.6(PCNT):c.9393+8C>T rs750108017
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro) rs752708321
NM_006031.6(PCNT):c.9959TAC[1] (p.Leu3321del) rs2148141560

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