ClinVar Miner

List of variants reported as uncertain significance for polycystic kidney disease by Natera, Inc.

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
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.281+3A>G rs79803080 0.00113
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.5752-9G>A rs184441390 0.00074
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026 0.00024
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915 0.00023
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809 0.00019
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537 0.00019
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 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.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) rs145745489 0.00014
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
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.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.7911+5C>A rs199953233 0.00012
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_138694.4(PKHD1):c.1694-10C>G rs745911880 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
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.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195 0.00007
NM_138694.4(PKHD1):c.8440+10G>C rs376658460 0.00007
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=) rs199768081 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser) rs374566843 0.00005
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.3368G>A (p.Gly1123Asp) rs148356158 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00004
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) rs143915416 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.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 0.00004
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 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.2981G>A (p.Arg994Gln) rs753169961 0.00004
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala) rs1398646157 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn) rs778583323 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu) rs374447352 0.00003
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) rs780740862 0.00003
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) rs750233738 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881 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.10155A>G (p.Ala3385=) rs773270584 0.00002
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=) rs770308751 0.00002
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg) rs1320401077 0.00002
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile) rs773044015 0.00002
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met) rs1458077668 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) rs190315828 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro) rs200129776 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.8554+5G>C rs1402749750 0.00002
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys) rs557405366 0.00001
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu) rs906560282 0.00001
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln) rs775097870 0.00001
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro) rs1180404523 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met) rs765645325 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile) rs769095204 0.00001
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser) rs1161554442 0.00001
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala) rs922828020 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val) rs746874144 0.00001
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys) rs774865280 0.00001
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn) rs779094064 0.00001
NM_138694.4(PKHD1):c.414C>T (p.Ile138=) rs368595925 0.00001
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu) rs778541098 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly) rs1271610315 0.00001
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp) rs758834151 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.4904C>T (p.Ala1635Val) rs1270680534 0.00001
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala) rs1302500833 0.00001
NM_138694.4(PKHD1):c.5364G>C (p.Leu1788Phe) rs780332791 0.00001
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) rs549418638 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210 0.00001
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) rs1554290169 0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) rs200807210 0.00001
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val) rs1280884139 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn) rs1375719978 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 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.8283T>A (p.Asp2761Glu) rs1381302226 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser) rs369941024 0.00001
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys) rs148990124 0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) rs768138709 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile) rs768508521 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser) rs1772516071
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr) rs149486694
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro) rs533977466
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=) rs1581893486
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln) rs1772450315
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile) rs113697159
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11507-10C>G rs1768075438
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=) rs1766326928
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg) rs140458350
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile) rs1012552954
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly) rs375547868
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu) rs1806591259
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu) rs1806234590
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) rs1562220663
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala) rs373974753
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro) rs770882723
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val) rs957113162
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=) rs1581909859
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn) rs1192156901
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) rs1581815094
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) rs1802145665
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.402G>A (p.Ala134=) rs200992930
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr) rs1178166648
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=) rs1802043497
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) rs1562166222
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) rs1581806804
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met) rs1201402132
NM_138694.4(PKHD1):c.534G>A (p.Val178=) rs1226545035
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu) rs1562140096
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser) rs551783157
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys) rs1440253606
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys) rs756450923
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=) rs368194577
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg) rs765874902
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser) rs1334374415
NM_138694.4(PKHD1):c.6997-5T>C rs1422813423
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=) rs765985090
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr) rs774331743
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg) rs1246936197
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln) rs369677008
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser) rs1358906875
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala) rs1773239517
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr) rs398124493
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=) rs752563887
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu) rs778592523
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser) rs749313015
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) rs1554263087
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) rs764600547
NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile) rs1363630467
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr) rs1786406368
NM_138694.4(PKHD1):c.9027G>T (p.Val3009=) rs1785566962
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala) rs1785533041
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln) rs1160858819
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn) rs1417442108
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563

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.