ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive polycystic kidney disease by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 426
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709 0.00060
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
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.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.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 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.7911+5C>A rs199953233 0.00012
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu) rs368467585 0.00011
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.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) rs373643848 0.00008
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 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.9665A>G (p.His3222Arg) rs777989032 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.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser) rs777994980 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 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.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 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.1893C>G (p.Phe631Leu) rs886061620 0.00004
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 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.3242G>A (p.Arg1081His) rs201123815 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.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.4835C>A (p.Thr1612Asn) rs754964877 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser) rs757627773 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.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.2407+5A>G rs767994974 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn) rs779094064 0.00003
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) rs780740862 0.00003
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7575A>C (p.Glu2525Asp) rs756456332 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val) rs137909186 0.00003
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg) rs1320401077 0.00002
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) rs769135174 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.3005C>T (p.Ser1002Phe) rs760793047 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys) rs752105357 0.00002
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn) rs894304918 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.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00002
NM_138694.4(PKHD1):c.6380T>G (p.Ile2127Ser) rs372932771 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 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.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.10655C>T (p.Pro3552Leu) rs1002017976 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.11786-3C>A rs746467881 0.00001
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter) rs780097121 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.1594G>A (p.Ala532Thr) rs367837640 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.2377C>T (p.Arg793Cys) rs779653146 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2592+6T>C rs746058715 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala) rs922828020 0.00001
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala) rs144387673 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.31A>G (p.Ile11Val) rs765389565 0.00001
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr) rs772369540 0.00001
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060 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.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys) rs774865280 0.00001
NM_138694.4(PKHD1):c.3983T>C (p.Val1328Ala) rs767017869 0.00001
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692 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.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) rs140331370 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.4918G>A (p.Val1640Ile) rs1396314967 0.00001
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala) rs1302500833 0.00001
NM_138694.4(PKHD1):c.5069C>T (p.Ser1690Leu) rs1801882752 0.00001
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr) rs759619749 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr) rs772835579 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.722A>G (p.Lys241Arg) rs763591478 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.7414A>G (p.Thr2472Ala) rs137972951 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7600A>G (p.Lys2534Glu) rs1392464284 0.00001
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu) rs765237487 0.00001
NM_138694.4(PKHD1):c.7742C>T (p.Thr2581Ile) rs1447744840 0.00001
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn) rs1375719978 0.00001
NM_138694.4(PKHD1):c.7847T>C (p.Leu2616Pro) rs772556933 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val) rs761723122 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.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) rs768138709 0.00001
NM_138694.4(PKHD1):c.8860A>G (p.Thr2954Ala) rs1292890415 0.00001
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile) rs768508521 0.00001
NC_000006.11:g.(?_51483879)_(51491934_?)dup
NC_000006.11:g.(?_51609163)_(51640739_?)dup
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro)
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr)
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10151A>G (p.Asn3384Ser)
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
NM_138694.4(PKHD1):c.10219C>G (p.Gln3407Glu) rs781368899
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
NM_138694.4(PKHD1):c.10251C>A (p.Ser3417Arg)
NM_138694.4(PKHD1):c.10252G>C (p.Ala3418Pro) rs776589273
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser) rs1772516071
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.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile)
NM_138694.4(PKHD1):c.10613T>A (p.Ile3538Asn) rs2150414899
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.10657A>G (p.Ile3553Val)
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp)
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln) rs1772450315
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys)
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn)
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys) rs752514286
NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala)
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys)
NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro)
NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly)
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile) rs113697159
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys)
NM_138694.4(PKHD1):c.11219C>T (p.Pro3740Leu) rs2150367118
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11252A>T (p.Asp3751Val)
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala)
NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp) rs1489049173
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg)
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu)
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr)
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del)
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala) rs2150278411
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg) rs2150241950
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr)
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg) rs2150240920
NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro)
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
NM_138694.4(PKHD1):c.1403G>A (p.Arg468Lys) rs765645325
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro) rs186202437
NM_138694.4(PKHD1):c.1555G>A (p.Asp519Asn)
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met)
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn)
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln)
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) rs1554214687
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del)
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn)
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.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.206T>C (p.Val69Ala)
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser) rs2128203303
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val)
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2280-3C>T
NM_138694.4(PKHD1):c.2306A>G (p.Glu769Gly)
NM_138694.4(PKHD1):c.2341C>G (p.Arg781Gly)
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu) rs1806234590
NM_138694.4(PKHD1):c.2371C>G (p.His791Asp) rs781097626
NM_138694.4(PKHD1):c.2396C>G (p.Thr799Arg) rs1465053705
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly)
NM_138694.4(PKHD1):c.2593-3C>T rs1290670072
NM_138694.4(PKHD1):c.2612C>G (p.Thr871Ser)
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro) rs1581922432
NM_138694.4(PKHD1):c.2627C>T (p.Ala876Val)
NM_138694.4(PKHD1):c.2636C>T (p.Thr879Met)
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu) rs2128184282
NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis) rs2128184229
NM_138694.4(PKHD1):c.2733_2734insTGCCCAGGTTCAGGT (p.Asn911_Asp912insCysProGlySerGly) rs2128184195
NM_138694.4(PKHD1):c.2740C>T (p.Pro914Ser)
NM_138694.4(PKHD1):c.2834A>T (p.Asn945Ile)
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val) rs957113162
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu)
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr)
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser)
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe) rs769085607
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn)
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met)
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn) rs1192156901
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) rs878855202
NM_138694.4(PKHD1):c.3545G>C (p.Ser1182Thr)
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
NM_138694.4(PKHD1):c.3637A>T (p.Ile1213Phe)
NM_138694.4(PKHD1):c.3695T>G (p.Val1232Gly)
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) rs1802145665
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val)
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly)
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile)
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly)
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) rs1562166222
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile)
NM_138694.4(PKHD1):c.4304G>A (p.Ser1435Asn) rs138242579
NM_138694.4(PKHD1):c.4314C>A (p.Asp1438Glu)
NM_138694.4(PKHD1):c.4363_4364delinsAA (p.Ala1455Asn) rs2128144041
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.4459G>C (p.Val1487Leu)
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
NM_138694.4(PKHD1):c.4477A>C (p.Thr1493Pro) rs745429712
NM_138694.4(PKHD1):c.4489G>A (p.Gly1497Arg)
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) rs1581806804
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val) rs2128234015
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser)
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) rs1562162277
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala)
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg)
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro)
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
NM_138694.4(PKHD1):c.5012C>G (p.Thr1671Ser) rs1313759171
NM_138694.4(PKHD1):c.5023G>A (p.Ala1675Thr) rs1801889887
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys)
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys)
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val)
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met) rs1201402132
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val)
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly)
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His) rs886042677
NM_138694.4(PKHD1):c.5381-9T>G rs1332944383
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala) rs780643984
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411G>T (p.Arg1804Leu)
NM_138694.4(PKHD1):c.5473A>G (p.Met1825Val)
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
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.5599A>G (p.Ser1867Gly)
NM_138694.4(PKHD1):c.5600+6T>C rs1800710573
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr) rs864622533
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
NM_138694.4(PKHD1):c.5687C>G (p.Thr1896Arg)
NM_138694.4(PKHD1):c.5693A>G (p.Asn1898Ser)
NM_138694.4(PKHD1):c.5708T>C (p.Val1903Ala)
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.5885T>G (p.Ile1962Ser) rs756573585
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser) rs375949362
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp)
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala) rs2127768810
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val) rs2127668227
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile)
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys) rs1440253606
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr)
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln)
NM_138694.4(PKHD1):c.6623T>G (p.Val2208Gly)
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6691A>G (p.Ile2231Val) rs2127637295
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys) rs1315333212
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu)
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu)
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg) rs765874902
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser) rs1334374415
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) rs775831255
NM_138694.4(PKHD1):c.700A>G (p.Lys234Glu) rs2128229167
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val)
NM_138694.4(PKHD1):c.7180A>G (p.Ser2394Gly)
NM_138694.4(PKHD1):c.7210G>A (p.Ala2404Thr)
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser) rs773601448
NM_138694.4(PKHD1):c.7286T>C (p.Val2429Ala)
NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys)
NM_138694.4(PKHD1):c.7350+5G>A rs1554287798
NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=) rs1775822734
NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile) rs2151777825
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.7673G>C (p.Arg2558Pro)
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser) rs1358906875
NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp)
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.778+3A>G
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His)
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe)
NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr)
NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr)
NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr)
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) rs1562410452
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.8282A>T (p.Asp2761Val) rs2151511198
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) rs764600547
NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser)
NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu)
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser) rs2151262384
NM_138694.4(PKHD1):c.8378T>C (p.Val2793Ala) rs2151262174
NM_138694.4(PKHD1):c.8470C>G (p.Gln2824Glu)
NM_138694.4(PKHD1):c.8590C>G (p.Pro2864Ala)
NM_138694.4(PKHD1):c.8635A>T (p.Asn2879Tyr) rs2151137736
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln)
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr) rs1786406368
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) rs1231976944
NM_138694.4(PKHD1):c.893A>G (p.Asp298Gly)
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.9044T>G (p.Ile3015Ser) rs2150987139
NM_138694.4(PKHD1):c.9154G>C (p.Asp3052His) rs765526
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9269A>G (p.Asn3090Ser) rs1785518946
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) rs749998868
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln) rs1160858819
NM_138694.4(PKHD1):c.9368C>T (p.Ala3123Val)
NM_138694.4(PKHD1):c.9400A>G (p.Lys3134Glu) rs2150984204
NM_138694.4(PKHD1):c.9448T>C (p.Phe3150Leu) rs2150983802
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) rs878855204
NM_138694.4(PKHD1):c.9529A>G (p.Ile3177Val)
NM_138694.4(PKHD1):c.9598C>T (p.Leu3200Phe)
NM_138694.4(PKHD1):c.9613A>C (p.Ile3205Leu)
NM_138694.4(PKHD1):c.961A>G (p.Thr321Ala) rs2128221798
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138694.4(PKHD1):c.9973T>C (p.Phe3325Leu) rs199924729

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