ClinVar Miner

List of variants in gene PCNT reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.26843
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25479
NM_006031.6(PCNT):c.5994+38T>C rs73907502 0.18733
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
NM_006031.6(PCNT):c.7913+40C>T rs1023161 0.18569
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
NM_006031.6(PCNT):c.640-38T>G rs2839216 0.12924
NM_006031.6(PCNT):c.3465-40C>T rs7279052 0.11767
NM_006031.6(PCNT):c.7913+32C>T rs57385578 0.06573
NM_006031.6(PCNT):c.6150+49C>T rs112334245 0.05936
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_006031.6(PCNT):c.1937-44G>A rs17297961 0.04884
NM_006031.6(PCNT):c.720+32C>T rs114224027 0.03510
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006031.6(PCNT):c.9623+8C>T rs75758339 0.00388
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser) rs150704986 0.00341
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006 0.00257
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=) rs138588682 0.00186
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) rs189308172 0.00163
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006031.6(PCNT):c.724G>A (p.Val242Met) rs147931950 0.00115
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=) rs139227909 0.00096
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774 0.00043
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334 0.00041
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824 0.00040
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg) rs201827977 0.00039
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=) rs146875945 0.00031
NM_006031.6(PCNT):c.6150+30C>A rs13046462 0.00026
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile) rs113208348 0.00020
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn) rs200303861 0.00020
NM_006031.6(PCNT):c.9363C>A (p.Ala3121=) rs144262961 0.00019
NM_006031.6(PCNT):c.8130C>T (p.His2710=) rs373738288 0.00016
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=) rs370040791 0.00014
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) rs150156962 0.00014
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) rs142800774 0.00014
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306 0.00012
NM_006031.6(PCNT):c.9030A>G (p.Lys3010=) rs138791485 0.00012
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231 0.00011
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) rs140416280 0.00011
NM_006031.6(PCNT):c.9123G>A (p.Gln3041=) rs753027643 0.00010
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=) rs143490174 0.00009
NM_006031.6(PCNT):c.4527G>A (p.Ala1509=) rs142020803 0.00009
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=) rs755726044 0.00008
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=) rs144430478 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_006031.6(PCNT):c.721-5C>T rs144683591 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=) rs756904669 0.00007
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538 0.00006
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=) rs375869631 0.00006
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala) rs375035745 0.00005
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006031.6(PCNT):c.4371G>A (p.Ala1457=) rs761736816 0.00004
NM_006031.6(PCNT):c.1754G>A (p.Arg585Gln) rs769615384 0.00003
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773 0.00003
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=) rs532762118 0.00003
NM_006031.6(PCNT):c.9597C>T (p.Ala3199=) rs780802031 0.00003
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340 0.00002
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=) rs765239781 0.00002
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=) rs774962506 0.00002
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=) rs776946965 0.00002
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) rs771882821 0.00001
NM_006031.6(PCNT):c.3795G>A (p.Leu1265=) rs761411121 0.00001
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=) rs770667557 0.00001
NM_006031.6(PCNT):c.6100C>T (p.Leu2034=) rs1346863140 0.00001
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=) rs763122571 0.00001
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) rs372531708 0.00001
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=) rs369949793 0.00001
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684 0.00001
NM_006031.6(PCNT):c.1278G>A (p.Glu426=) rs773448951
NM_006031.6(PCNT):c.1300T>C (p.Leu434=) rs1384003964
NM_006031.6(PCNT):c.1380G>A (p.Lys460=) rs1555953192
NM_006031.6(PCNT):c.1825G>C (p.Glu609Gln) rs529457692
NM_006031.6(PCNT):c.2019G>A (p.Leu673=) rs868039816
NM_006031.6(PCNT):c.2610-50T>A rs9637173
NM_006031.6(PCNT):c.3411C>G (p.Gly1137=) rs375993930
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=) rs587784305
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=) rs570456724
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu) rs368565898
NM_006031.6(PCNT):c.7180-41G>T rs8128866
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=) rs774517427
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.9409C>G (p.Leu3137Val) rs1556007750

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