ClinVar Miner

List of variants in gene PKHD1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 334
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.2821+10G>A rs367619854 0.00020
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_138694.4(PKHD1):c.1603-19T>A rs201996881 0.00019
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.8951-19G>A rs200025399 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511 0.00009
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) rs751244001 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034 0.00006
NM_138694.4(PKHD1):c.11506+14G>C rs371687822 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00006
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) rs776068047 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_138694.4(PKHD1):c.977-20G>A rs753880972 0.00005
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.2538C>T (p.His846=) rs775356491 0.00004
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) rs950789431 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.131-16C>T rs1174461021 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) rs778487042 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) rs758960742 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00003
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) rs781630151 0.00003
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) rs140920157 0.00002
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) rs769143280 0.00002
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) rs199643308 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) rs753436694 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) rs562160590 0.00001
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) rs778545068 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) rs769144028 0.00001
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2280-4A>T rs549804372 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) rs1167596697 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) rs776654447 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) rs756431455 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) rs746096431 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.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) rs1393535530
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
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.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) rs565836750
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) rs932913425
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.