ClinVar Miner

List of variants reported as uncertain significance for cystic kidney disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 384
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_138694.4(PKHD1):c.*2967T>A rs41273714 0.00582
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_138694.4(PKHD1):c.*232T>G rs147372425 0.00294
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_000297.4(PKD2):c.*1113G>A rs541524392 0.00232
NM_138694.4(PKHD1):c.*1005C>T rs41273716 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_138694.4(PKHD1):c.*1083G>T rs376414551 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.*1597G>A rs116233809 0.00137
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_000297.4(PKD2):c.-26C>T rs530444554 0.00134
NM_000297.4(PKD2):c.*552G>A rs139787413 0.00123
NM_138694.4(PKHD1):c.*308C>T rs570760306 0.00112
NM_000297.4(PKD2):c.441G>A (p.Ala147=) rs866815144 0.00109
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_000297.4(PKD2):c.*957T>A rs143594425 0.00098
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln) rs150947109 0.00086
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
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.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_000297.4(PKD2):c.*174G>T rs187001642 0.00069
NM_000297.4(PKD2):c.-68A>G rs547865163 0.00065
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_000297.4(PKD2):c.1836T>C (p.Ala612=) rs145952917 0.00048
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_000297.4(PKD2):c.402G>A (p.Val134=) rs886059696 0.00042
NM_000297.4(PKD2):c.403G>A (p.Gly135Ser) rs886059697 0.00042
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_138694.4(PKHD1):c.*1450T>A rs755494395 0.00040
NM_138694.4(PKHD1):c.7215+13G>T rs562612275 0.00039
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_138694.4(PKHD1):c.5381-12T>C rs143682303 0.00037
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) rs138495345 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_000297.4(PKD2):c.*110T>G rs563547032 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_000297.4(PKD2):c.*1588G>A rs758211189 0.00034
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00033
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.*1217G>A rs886061605 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.*1221T>C rs577956232 0.00025
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_000297.4(PKD2):c.*1406C>G rs748885735 0.00023
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 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.*2922T>C rs146856769 0.00019
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.*1381G>C rs573219087 0.00016
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.2006G>A (p.Arg669His) rs200497761 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_000297.4(PKD2):c.*1152T>C rs367711189 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00015
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_138694.4(PKHD1):c.*2976C>T rs145040289 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_138694.4(PKHD1):c.*934G>T rs558281379 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_000297.4(PKD2):c.9C>T (p.Asn3=) rs773343245 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_000297.4(PKD2):c.-47G>C rs770096557 0.00011
NM_138694.4(PKHD1):c.*3171A>G rs149167096 0.00011
NM_138694.4(PKHD1):c.-214G>A rs886061625 0.00011
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837 0.00011
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_138694.4(PKHD1):c.*3345T>A rs530251992 0.00010
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.*1244G>A rs917933676 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 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.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=) rs373795139 0.00009
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_000297.4(PKD2):c.*1250A>G rs971004998 0.00008
NM_000297.4(PKD2):c.203C>A (p.Pro68Gln) rs751221093 0.00008
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln) rs181391485 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_000297.4(PKD2):c.154C>A (p.Leu52Met) rs886059694 0.00007
NM_000297.4(PKD2):c.419G>A (p.Gly140Glu) rs776779368 0.00007
NM_138694.4(PKHD1):c.*822G>A rs974589280 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.3629-15G>A rs375870003 0.00007
NM_000297.4(PKD2):c.*744G>A rs886059706 0.00006
NM_000297.4(PKD2):c.103G>A (p.Ala35Thr) rs759263638 0.00006
NM_000297.4(PKD2):c.104C>A (p.Ala35Asp) rs765176523 0.00006
NM_000297.4(PKD2):c.2240+10A>G rs201679112 0.00006
NM_138694.4(PKHD1):c.*1154A>G rs548889112 0.00006
NM_138694.4(PKHD1):c.*220A>G rs751649423 0.00006
NM_138694.4(PKHD1):c.*2443A>G rs145917681 0.00006
NM_138694.4(PKHD1):c.*2716C>G rs1311498221 0.00006
NM_138694.4(PKHD1):c.*3138G>A rs894857837 0.00006
NM_138694.4(PKHD1):c.*918T>A rs544051183 0.00006
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) rs200918134 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=) rs775529923 0.00006
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_000297.4(PKD2):c.*968A>G rs531591196 0.00005
NM_000297.4(PKD2):c.2388A>G (p.Leu796=) rs535577967 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
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.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_000297.4(PKD2):c.1542C>T (p.Ile514=) rs145716012 0.00004
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) rs148920907 0.00004
NM_000297.4(PKD2):c.2241-9T>C rs886059702 0.00004
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr) rs886059698 0.00004
NM_003361.4(UMOD):c.*88G>A rs547514548 0.00004
NM_138694.4(PKHD1):c.*1027G>A rs960304347 0.00004
NM_138694.4(PKHD1):c.*2031A>G rs886061597 0.00004
NM_138694.4(PKHD1):c.*780A>G rs886061606 0.00004
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) rs143915416 0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 0.00004
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650 0.00004
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr) rs760665951 0.00004
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp) rs775246362 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632 0.00004
NM_000297.4(PKD2):c.*1654T>C rs778483971 0.00003
NM_003361.4(UMOD):c.*59G>A rs886051783 0.00003
NM_138694.4(PKHD1):c.*1257G>A rs886061604 0.00003
NM_138694.4(PKHD1):c.*3444G>A rs772732172 0.00003
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val) rs747283913 0.00003
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 0.00003
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275 0.00003
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala) rs374106769 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.708-4G>A rs748018742 0.00003
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057 0.00003
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val) rs367590965 0.00003
NM_000297.4(PKD2):c.*1826A>G rs189817187 0.00002
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln) rs142261953 0.00002
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp) rs749112798 0.00002
NM_138694.4(PKHD1):c.*1001A>G rs926038607 0.00002
NM_138694.4(PKHD1):c.*2580C>A rs886061595 0.00002
NM_138694.4(PKHD1):c.*3323T>C rs886061592 0.00002
NM_138694.4(PKHD1):c.-30A>G rs767584874 0.00002
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val) rs528907395 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg) rs771108371 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_000297.4(PKD2):c.*116C>T rs529071216 0.00001
NM_000297.4(PKD2):c.*1175T>A rs886059707 0.00001
NM_000297.4(PKD2):c.*1291T>C rs1325998362 0.00001
NM_000297.4(PKD2):c.*1941del rs886059710 0.00001
NM_000297.4(PKD2):c.*351T>C rs1166143834 0.00001
NM_000297.4(PKD2):c.-64C>T rs886059693 0.00001
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr) rs144431856 0.00001
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.199C>T (p.Pro67Ser) rs1426011277 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys) rs770609334 0.00001
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys) rs1215199829 0.00001
NM_000297.4(PKD2):c.2902G>C (p.Val968Leu) rs549787080 0.00001
NM_000297.4(PKD2):c.945G>A (p.Leu315=) rs201789789 0.00001
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly) rs755560531 0.00001
NM_003361.4(UMOD):c.*262C>G rs1422710573 0.00001
NM_003361.4(UMOD):c.*39C>T rs770789937 0.00001
NM_003361.4(UMOD):c.1131G>C (p.Trp377Cys) rs201738891 0.00001
NM_003361.4(UMOD):c.472G>A (p.Gly158Arg) rs1239315488 0.00001
NM_003361.4(UMOD):c.808G>A (p.Gly270Ser) rs781101544 0.00001
NM_138694.4(PKHD1):c.*1376A>G rs886061602 0.00001
NM_138694.4(PKHD1):c.*1789G>A rs763964515 0.00001
NM_138694.4(PKHD1):c.*1933G>A rs886061598 0.00001
NM_138694.4(PKHD1):c.*2304_*2305insA rs886061596 0.00001
NM_138694.4(PKHD1):c.*27G>A rs764352165 0.00001
NM_138694.4(PKHD1):c.*3030A>G rs1277165962 0.00001
NM_138694.4(PKHD1):c.*3269C>A rs886061593 0.00001
NM_138694.4(PKHD1):c.-223G>A rs886061626 0.00001
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11507-5C>T rs886061609 0.00001
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr) rs371652243 0.00001
NM_138694.4(PKHD1):c.1693+10G>A rs886061621 0.00001
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val) rs767122237 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060 0.00001
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) rs754333450 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.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe) rs767464186 0.00001
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile) rs1314635548 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro) rs761681284 0.00001
NM_138694.4(PKHD1):c.7733+15C>A rs771759749 0.00001
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629 0.00001
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln) rs772538453 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00001
NM_000297.4(PKD2):c.*1010G>A rs144024108
NM_000297.4(PKD2):c.*1357CTT[1] rs886059708
NM_000297.4(PKD2):c.*1611T>G rs886059709
NM_000297.4(PKD2):c.*184dup rs533244915
NM_000297.4(PKD2):c.*1972C>G rs1721278680
NM_000297.4(PKD2):c.*2000G>A rs182468664
NM_000297.4(PKD2):c.*507T>G rs772523897
NM_000297.4(PKD2):c.*512_*513del rs570887943
NM_000297.4(PKD2):c.*515A>G rs1721229575
NM_000297.4(PKD2):c.-82G>A rs529779778
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu) rs188394492
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) rs977431912
NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg) rs1727791483
NM_000297.4(PKD2):c.1573A>C (p.Asn525His) rs1720121916
NM_000297.4(PKD2):c.189C>T (p.Ala63=) rs886059695
NM_000297.4(PKD2):c.1915A>T (p.Ile639Phe) rs964798879
NM_000297.4(PKD2):c.1934A>G (p.Asn645Ser) rs1720428369
NM_000297.4(PKD2):c.2757T>C (p.Asp919=) rs1199134875
NM_000297.4(PKD2):c.2803C>T (p.Leu935=) rs957416019
NM_000297.4(PKD2):c.331G>A (p.Val111Met) rs1726241184
NM_000297.4(PKD2):c.544G>C (p.Gly182Arg) rs886059699
NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys) rs886059700
NM_000297.4(PKD2):c.781C>T (p.Pro261Ser) rs886059701
NM_003361.4(UMOD):c.*226_*229del rs886051782
NM_003361.4(UMOD):c.*231A>G rs886051781
NM_003361.4(UMOD):c.-57C>T rs767217667
NM_003361.4(UMOD):c.1182+5G>T rs755374625
NM_003361.4(UMOD):c.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys) rs1965189208
NM_003361.4(UMOD):c.1859dup (p.Leu620fs) rs886051784
NM_003361.4(UMOD):c.480C>T (p.Asp160=) rs1965738932
NM_003361.4(UMOD):c.77C>T (p.Thr26Ile) rs769806862
NM_003361.4(UMOD):c.865+7C>G rs759063012
NM_003361.4(UMOD):c.895G>A (p.Glu299Lys) rs1965696937
NM_138694.3(PKHD1):c.-276A>C rs773740905
NM_138694.4(PKHD1):c.*1023G>A rs185962129
NM_138694.4(PKHD1):c.*1130C>T rs181120541
NM_138694.4(PKHD1):c.*1335T>C rs886061603
NM_138694.4(PKHD1):c.*1492_*1497del rs886061601
NM_138694.4(PKHD1):c.*1589T>G rs886061600
NM_138694.4(PKHD1):c.*1592T>C rs1288662627
NM_138694.4(PKHD1):c.*1596C>T rs555042069
NM_138694.4(PKHD1):c.*1749C>T rs886061599
NM_138694.4(PKHD1):c.*1T>C rs369623770
NM_138694.4(PKHD1):c.*2463C>T rs1766092325
NM_138694.4(PKHD1):c.*2552_*2553dup rs113144792
NM_138694.4(PKHD1):c.*2553dup rs113144792
NM_138694.4(PKHD1):c.*2665C>A rs189302289
NM_138694.4(PKHD1):c.*2857A>C rs886061594
NM_138694.4(PKHD1):c.*3379A>G rs544667112
NM_138694.4(PKHD1):c.*3505AATT[1] rs552076092
NM_138694.4(PKHD1):c.*3520T>C rs886061591
NM_138694.4(PKHD1):c.*604C>A rs41273720
NM_138694.4(PKHD1):c.*760T>G rs886061607
NM_138694.4(PKHD1):c.-185A>G rs1812958193
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) rs886061613
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg) rs1581895338
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe) rs1772497198
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) rs886061611
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) rs147700643
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg) rs1012338385
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=) rs751385266
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1234-10T>C rs4715272
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) rs886061622
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2593-3C>T rs1290670072
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys) rs776017473
NM_138694.4(PKHD1):c.281+13G>A rs1812167147
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly) rs755183117
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala) rs1229292183
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) rs140815495
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=) rs751984319
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr) rs1801992008
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr) rs1800742665
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly) rs1810703881
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys) rs1787094080
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser) rs147595459
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.6866-5A>G rs886061617
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro) rs759314898
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg) rs1775357730
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe) rs746288867
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=) rs1431478120
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=) rs368178645
NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala) rs1790366459
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.888A>G (p.Pro296=) rs76012218
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp) rs1785519408
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile) rs575058604
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu) rs1562221107
NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys) rs770299635

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