ClinVar Miner

List of variants in gene PCNT reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.8751+23dup rs5844270 1.00000
NM_006031.6(PCNT):c.2609+211T>C rs4819243 0.99288
NM_006031.6(PCNT):c.2154+116A>G rs2839224 0.89893
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223 0.88373
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546 0.88316
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289 0.87478
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228 0.87375
NM_006031.6(PCNT):c.9700+138A>G rs2839262 0.82849
NM_006031.6(PCNT):c.9624-222T>C rs10854482 0.82001
NM_006031.6(PCNT):c.1937-183G>A rs2839222 0.74041
NM_006031.6(PCNT):c.7494+143T>C rs2073374 0.68934
NM_006031.6(PCNT):c.2610-5C>T rs2839226 0.68609
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376 0.67500
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_006031.6(PCNT):c.5116-260T>C rs2839243 0.67362
NM_006031.6(PCNT):c.4217-226G>A rs2186350 0.67325
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_006031.6(PCNT):c.720+110A>C rs9979907 0.67075
NM_006031.6(PCNT):c.8996+322G>C rs10600726 0.66171
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426 0.48521
NM_006031.6(PCNT):c.4962+91G>A rs2839241 0.35834
NM_006031.6(PCNT):c.1345-287C>T rs2839218 0.33572
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_006031.6(PCNT):c.4584+129T>C rs2073382 0.32646
NM_006031.6(PCNT):c.721-7G>A rs2839217 0.32249
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438 0.32038
NM_006031.6(PCNT):c.1033-254T>G rs1974172 0.31518
NM_006031.6(PCNT):c.3313-84C>G rs2073378 0.31184
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) rs6518291 0.31129
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.26843
NM_006031.6(PCNT):c.9393+102C>T rs2073377 0.26811
NM_006031.6(PCNT):c.9967+89G>C rs2073381 0.26796
NM_006031.6(PCNT):c.9967+79C>T rs2249970 0.26789
NM_006031.6(PCNT):c.9624-190C>T rs2839261 0.26786
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227 0.26258
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25479
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425 0.24579
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413 0.22440
NM_006031.6(PCNT):c.6150+150A>C rs4577375 0.21155
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764 0.18919
NM_006031.6(PCNT):c.7913+9G>C rs1023160 0.18804
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) rs58559714 0.18798
NM_006031.6(PCNT):c.5995-157C>T rs8126647 0.18753
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.5994+231C>T rs73909505 0.18704
NM_006031.6(PCNT):c.6921+98A>G rs13340001 0.18699
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) rs1044998 0.18680
NM_006031.6(PCNT):c.6921+218A>G rs13340002 0.18663
NM_006031.6(PCNT):c.7024+201T>C rs60124276 0.18658
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) rs7277175 0.18653
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) rs2839246 0.18636
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245 0.18635
NM_006031.6(PCNT):c.6151-103_6151-102insCT rs3058055 0.18626
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256 0.18603
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208 0.18595
NM_006031.6(PCNT):c.7913+40C>T rs1023161 0.18569
NM_006031.6(PCNT):c.7690+50G>A rs60356719 0.18563
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
NM_006031.6(PCNT):c.9840-151G>A rs743347 0.18415
NM_006031.6(PCNT):c.7179+298C>T rs60495355 0.18407
NM_006031.6(PCNT):c.7320+51T>C rs2330435 0.18290
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162 0.18249
NM_006031.6(PCNT):c.7320+57T>C rs2330436 0.18215
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380 0.17969
NM_006031.6(PCNT):c.4963-212G>T rs56077060 0.17947
NM_006031.6(PCNT):c.9274-58dup rs78656506 0.17799
NM_006031.6(PCNT):c.5115+147C>T rs8129460 0.17730
NM_006031.6(PCNT):c.9394-4T>C rs2839260 0.14350
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) rs57108405 0.13713
NM_006031.6(PCNT):c.7024+223C>T rs58572600 0.13685
NM_006031.6(PCNT):c.1762-243C>T rs2839221 0.13639
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) rs61407822 0.13635
NM_006031.6(PCNT):c.639+181C>A rs2839214 0.13010
NM_006031.6(PCNT):c.640-38T>G rs2839216 0.12924
NM_006031.6(PCNT):c.7180-306C>T rs8129476 0.12905
NM_006031.6(PCNT):c.7494+137C>A rs60091558 0.12886
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060 0.12572
NM_006031.6(PCNT):c.976+96G>A rs9981892 0.12563
NM_006031.6(PCNT):c.3166-105G>A rs34950974 0.12346
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204 0.11770
NM_006031.6(PCNT):c.3465-40C>T rs7279052 0.11767
NM_006031.6(PCNT):c.4962+269A>G rs4818840 0.11589
NM_006031.6(PCNT):c.6150+141A>G rs4577374 0.11562
NM_006031.6(PCNT):c.4791+276A>G rs2839240 0.11519
NM_006031.6(PCNT):c.977-76G>C rs75756987 0.11439
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795 0.11349
NM_006031.6(PCNT):c.7025-192C>T rs2839251 0.11334
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522 0.11315
NM_006031.6(PCNT):c.7025-287G>A rs13053115 0.11286
NM_006031.6(PCNT):c.1680-234A>T rs6518288 0.10264
NM_006031.6(PCNT):c.1937-161G>A rs11700399 0.08703
NM_006031.6(PCNT):c.3312+159A>G rs76874771 0.08182
NM_006031.6(PCNT):c.3312+166G>A rs77643189 0.08108
NM_006031.6(PCNT):c.6150+147C>T rs4516528 0.07964
NM_006031.6(PCNT):c.7913+32C>T rs57385578 0.06573
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) rs61735543 0.06211
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693 0.05976
NM_006031.6(PCNT):c.6150+49C>T rs112334245 0.05936
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811 0.05866
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_006031.6(PCNT):c.3312+307G>A rs143111553 0.05384
NM_006031.6(PCNT):c.5115+223A>C rs11909415 0.05353
NM_006031.6(PCNT):c.6922-310C>A rs57819744 0.05347
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_006031.6(PCNT):c.1032+274C>A rs11910459 0.05215
NM_006031.6(PCNT):c.4584+220C>T rs7275694 0.05095
NM_006031.6(PCNT):c.4446+185G>A rs73907494 0.05076
NM_006031.6(PCNT):c.1936+59G>A rs73907210 0.05070
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_006031.6(PCNT):c.7025-93G>A rs111962882 0.04952
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) rs61735818 0.04944
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815 0.04931
NM_006031.6(PCNT):c.8065-268A>G rs79203677 0.04928
NM_006031.6(PCNT):c.9700+168C>T rs17372047 0.04914
NM_006031.6(PCNT):c.5116-219C>T rs78740931 0.04888
NM_006031.6(PCNT):c.1937-44G>A rs17297961 0.04884
NM_006031.6(PCNT):c.1207+196C>G rs17369792 0.04881
NM_006031.6(PCNT):c.1761+57T>C rs117007201 0.04867
NM_006031.6(PCNT):c.1032+56C>T rs79850630 0.04860
NM_006031.6(PCNT):c.4447-125G>A rs111512103 0.04857
NM_006031.6(PCNT):c.977-192G>A rs76934171 0.04851
NM_006031.6(PCNT):c.1679+220C>G rs17297798 0.04849
NM_006031.6(PCNT):c.4217-152A>G rs17298556 0.04849
NM_006031.6(PCNT):c.4446+155G>T rs79407815 0.04848
NM_006031.6(PCNT):c.3464+188G>A rs76321292 0.04847
NM_006031.6(PCNT):c.3312+311G>A rs150850349 0.04687
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_006031.6(PCNT):c.1456+111A>G rs2839219 0.04315
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817 0.04297
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_006031.6(PCNT):c.9624-237G>C rs75434240 0.04279
NM_006031.6(PCNT):c.1457-163G>A rs74776962 0.04221
NM_006031.6(PCNT):c.6150+90A>C rs111931506 0.04079
NM_006031.6(PCNT):c.7180-83G>A rs78995522 0.03982
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_006031.6(PCNT):c.1680-232A>T rs112283432 0.03674
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290 0.03522
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824 0.03505
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805 0.03082
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826 0.02642
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842 0.02525
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821 0.02105
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_006031.6(PCNT):c.721-200C>T rs11911089 0.01576
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812 0.01575
NM_006031.6(PCNT):c.1345-172C>T rs58154505 0.01571
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810 0.01545
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820 0.01494
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463 0.00973
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806 0.00816
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741 0.00812
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) rs61735816 0.00767
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602 0.00640
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
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.8752-5A>C rs149444205 0.00573
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825 0.00146
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970 0.00009
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1680-226AG[3] rs200721092
NM_006031.6(PCNT):c.1680-235GA[3] rs1555954604
NM_006031.6(PCNT):c.1680-235_1680-234insTGTGAG rs59894003
NM_006031.6(PCNT):c.1680-236_1680-233del rs1324068807
NM_006031.6(PCNT):c.1680-238_1680-233del rs745640943
NM_006031.6(PCNT):c.1680-242_1680-233del rs372289946
NM_006031.6(PCNT):c.1680-271GT[15] rs72175446
NM_006031.6(PCNT):c.1680-271GT[16] rs72175446
NM_006031.6(PCNT):c.1680-271GT[17] rs72175446
NM_006031.6(PCNT):c.1680-271GT[19] rs72175446
NM_006031.6(PCNT):c.1680-271GT[22] rs72175446
NM_006031.6(PCNT):c.1761+270= rs35539251
NM_006031.6(PCNT):c.2610-50T>A rs9637173
NM_006031.6(PCNT):c.2610-50T>G rs9637173
NM_006031.6(PCNT):c.3165+187del rs35676009
NM_006031.6(PCNT):c.3165+187dup rs35676009
NM_006031.6(PCNT):c.3312+151A>G rs78213973
NM_006031.6(PCNT):c.3312+160G>C rs75351856
NM_006031.6(PCNT):c.3312+171G>A rs79769247
NM_006031.6(PCNT):c.3312+226_3312+232del rs1342651494
NM_006031.6(PCNT):c.3841-103_3841-101dup rs3831446
NM_006031.6(PCNT):c.4447-254_4447-244dup rs57503743
NM_006031.6(PCNT):c.4585-230T>G rs74788394
NM_006031.6(PCNT):c.4585-284T>G rs73907495
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.4792-215C>T rs11701999
NM_006031.6(PCNT):c.4963-180dup rs11417856
NM_006031.6(PCNT):c.4963-190dup rs11391105
NM_006031.6(PCNT):c.5994+59G>A rs73909504
NM_006031.6(PCNT):c.6150+109C>T rs61544820
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6150+309A>G rs4577376
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.7179+308_7179+324dup rs58502414
NM_006031.6(PCNT):c.7320+106_7320+107insCTT rs199593779
NM_006031.6(PCNT):c.7320+106_7320+107insCTTT rs1281325072
NM_006031.6(PCNT):c.7320+116_7320+125del rs760416456
NM_006031.6(PCNT):c.7320+124_7320+125del rs760416456
NM_006031.6(PCNT):c.7320+125dup rs760416456
NM_006031.6(PCNT):c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAATC rs1555996907
NM_006031.6(PCNT):c.8064+245dup rs560879641
NM_006031.6(PCNT):c.8064+84del rs11285369
NM_006031.6(PCNT):c.8751+98C>T rs7283044
NM_006031.6(PCNT):c.8752-308G>A rs60407402
NM_006031.6(PCNT):c.8997-222G>A rs35418111
NM_006031.6(PCNT):c.9099+249_9099+297del rs879348635
NM_006031.6(PCNT):c.9701-201C>G rs2839263
NM_006031.6(PCNT):c.9840-30del rs3058084
NM_006031.6(PCNT):c.9840-31_9840-30del rs3058084
NM_006031.6(PCNT):c.9840-32_9840-30del rs3058084
NM_006031.6(PCNT):c.9967+198C>A rs77487457
NM_006031.6(PCNT):c.9968-223dup rs147675714

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