ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease 4 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00003
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00003
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00003
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter) rs1207597891 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) rs767737392 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2715+1G>A rs1554209188 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser) rs761046498 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter) rs1334951339 0.00001
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.881-1G>A rs1554220431 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val) rs754808508
NM_138694.4(PKHD1):c.10273C>T (p.Gln3425Ter)
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10452del (p.Leu3485fs)
NM_138694.4(PKHD1):c.10639del (p.Leu3547fs)
NM_138694.4(PKHD1):c.10646del (p.Gly3549fs)
NM_138694.4(PKHD1):c.10660G>T (p.Glu3554Ter)
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs) rs2533442093
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10780C>T (p.Gln3594Ter)
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10957delinsTG (p.Met3653fs)
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter) rs1772364866
NM_138694.4(PKHD1):c.110G>A (p.Trp37Ter)
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11666-2A>G rs1767343654
NM_138694.4(PKHD1):c.12036del (p.Gly4013fs)
NM_138694.4(PKHD1):c.1223del (p.Pro408fs)
NM_138694.4(PKHD1):c.1260del (p.Thr421fs) rs2533374401
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1300G>T (p.Glu434Ter)
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1431G>A (p.Trp477Ter)
NM_138694.4(PKHD1):c.1658G>A (p.Trp553Ter)
NM_138694.4(PKHD1):c.1804C>T (p.Gln602Ter)
NM_138694.4(PKHD1):c.1836+1G>T
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1892dup (p.Thr632fs)
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651
NM_138694.4(PKHD1):c.2110_2111dup (p.Ile705fs)
NM_138694.4(PKHD1):c.2141-9G>A
NM_138694.4(PKHD1):c.2161_2163delinsCT (p.Thr721fs)
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) rs1806573538
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2279+1G>T
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2552_2553delinsAG (p.Ser851Ter)
NM_138694.4(PKHD1):c.2592+1G>A
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+2T>C
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2779dup (p.Gln927fs)
NM_138694.4(PKHD1):c.281+2T>G rs2533757718
NM_138694.4(PKHD1):c.2859del (p.Gly954fs)
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.3097+1G>A
NM_138694.4(PKHD1):c.3097G>T (p.Gly1033Ter)
NM_138694.4(PKHD1):c.3156_3157insATTGGATATTGGATAAGATATT (p.Gly1053fs)
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg) rs1322231013
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter) rs2532778455
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter) rs2532778313
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3765_3766del (p.Gln1256fs)
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs) rs2532738284
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs) rs2532728375
NM_138694.4(PKHD1):c.4045del (p.Leu1349fs)
NM_138694.4(PKHD1):c.4065del (p.Leu1356fs)
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4411G>T (p.Glu1471Ter)
NM_138694.4(PKHD1):c.4450del (p.Ala1484fs)
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4512del (p.Arg1505fs)
NM_138694.4(PKHD1):c.4537_4554del (p.Ala1513_Val1518del)
NM_138694.4(PKHD1):c.4583dup (p.Thr1529fs)
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) rs2128142490
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5236+2del
NM_138694.4(PKHD1):c.528-1G>T rs202190787
NM_138694.4(PKHD1):c.528-2A>G rs2533607755
NM_138694.4(PKHD1):c.53-1G>A rs775511838
NM_138694.4(PKHD1):c.5336A>T (p.Asn1779Ile) rs1801599945
NM_138694.4(PKHD1):c.5359T>C (p.Cys1787Arg)
NM_138694.4(PKHD1):c.5444_5445del (p.Thr1815fs)
NM_138694.4(PKHD1):c.5506del (p.Tyr1836fs)
NM_138694.4(PKHD1):c.564dup (p.Thr189fs)
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5761del (p.Ser1921fs)
NM_138694.4(PKHD1):c.5854C>T (p.Gln1952Ter)
NM_138694.4(PKHD1):c.595G>T (p.Gly199Ter)
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6111_6112del (p.Leu2039fs)
NM_138694.4(PKHD1):c.6121+1G>A
NM_138694.4(PKHD1):c.6287_6288del (p.Val2096fs)
NM_138694.4(PKHD1):c.6351del (p.Glu2118fs)
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs) rs2536668310
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6631C>T (p.Gln2211Ter)
NM_138694.4(PKHD1):c.666C>G (p.Ile222Met)
NM_138694.4(PKHD1):c.673C>G (p.Gln225Glu)
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6996+4A>T rs781173081
NM_138694.4(PKHD1):c.7088del (p.Asn2363fs)
NM_138694.4(PKHD1):c.7110-1G>T
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs) rs2536225023
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7328T>G (p.Leu2443Ter)
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) rs1231660958
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) rs2151777194
NM_138694.4(PKHD1):c.7489G>T (p.Gly2497Ter)
NM_138694.4(PKHD1):c.7548dup (p.Pro2517fs)
NM_138694.4(PKHD1):c.76G>T (p.Glu26Ter)
NM_138694.4(PKHD1):c.7745del (p.Pro2582fs)
NM_138694.4(PKHD1):c.7757_7761del (p.Tyr2586fs) rs2535815327
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) rs1045491786
NM_138694.4(PKHD1):c.7911+2T>C
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8494_8496delinsA (p.Ala2832fs)
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8670G>A (p.Trp2890Ter)
NM_138694.4(PKHD1):c.8677del (p.His2893fs)
NM_138694.4(PKHD1):c.8752_8761del (p.Lys2917_Gly2918insTer)
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8766del (p.Ile2923fs)
NM_138694.4(PKHD1):c.8797+1G>T
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.937del (p.Ala313fs)
NM_138694.4(PKHD1):c.9533G>T (p.Gly3178Val)
NM_138694.4(PKHD1):c.9539del (p.Leu3180fs)
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.976+2T>A
NM_138694.4(PKHD1):c.977-2A>G rs2533444880
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356

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