ClinVar Miner

List of variants studied for Autosomal recessive polycystic kidney disease by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 178
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HGVS dbSNP
NM_138694.4(PKHD1):c.*1005C>T rs41273716
NM_138694.4(PKHD1):c.*1023G>A rs185962129
NM_138694.4(PKHD1):c.*1083G>T rs376414551
NM_138694.4(PKHD1):c.*1154A>G rs548889112
NM_138694.4(PKHD1):c.*1217G>A rs886061605
NM_138694.4(PKHD1):c.*1257G>A rs886061604
NM_138694.4(PKHD1):c.*1335T>C rs886061603
NM_138694.4(PKHD1):c.*1376A>G rs886061602
NM_138694.4(PKHD1):c.*1381G>C rs573219087
NM_138694.4(PKHD1):c.*1492_*1497del rs886061601
NM_138694.4(PKHD1):c.*1525G>A rs6941633
NM_138694.4(PKHD1):c.*1559T>C rs546309551
NM_138694.4(PKHD1):c.*1589T>G rs886061600
NM_138694.4(PKHD1):c.*1597G>A rs116233809
NM_138694.4(PKHD1):c.*1749C>T rs886061599
NM_138694.4(PKHD1):c.*1789G>A rs763964515
NM_138694.4(PKHD1):c.*1933G>A rs886061598
NM_138694.4(PKHD1):c.*2031A>G rs886061597
NM_138694.4(PKHD1):c.*2082A>G rs79635571
NM_138694.4(PKHD1):c.*2201G>A rs535226662
NM_138694.4(PKHD1):c.*2208A>G rs2784200
NM_138694.4(PKHD1):c.*220A>G rs751649423
NM_138694.4(PKHD1):c.*2304_*2305insA rs886061596
NM_138694.4(PKHD1):c.*2331C>T rs76762827
NM_138694.4(PKHD1):c.*2552_*2553dup rs113144792
NM_138694.4(PKHD1):c.*2553dup rs113144792
NM_138694.4(PKHD1):c.*2564A>G rs1414504
NM_138694.4(PKHD1):c.*2580C>A rs886061595
NM_138694.4(PKHD1):c.*27G>A rs764352165
NM_138694.4(PKHD1):c.*2857A>C rs886061594
NM_138694.4(PKHD1):c.*2922T>C rs146856769
NM_138694.4(PKHD1):c.*2967T>A rs41273714
NM_138694.4(PKHD1):c.*3025C>T rs2771012
NM_138694.4(PKHD1):c.*3026A>G rs2784199
NM_138694.4(PKHD1):c.*308C>T rs570760306
NM_138694.4(PKHD1):c.*3269C>A rs886061593
NM_138694.4(PKHD1):c.*3323T>C rs886061592
NM_138694.4(PKHD1):c.*3345T>A rs530251992
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.*3444G>A rs772732172
NM_138694.4(PKHD1):c.*3505_*3508AATT[1] rs552076092
NM_138694.4(PKHD1):c.*3520T>C rs886061591
NM_138694.4(PKHD1):c.*374T>C rs2784201
NM_138694.4(PKHD1):c.*636C>A rs41273718
NM_138694.4(PKHD1):c.*760T>G rs886061607
NM_138694.4(PKHD1):c.*780A>G rs886061606
NM_138694.4(PKHD1):c.*934G>T rs558281379
NM_138694.4(PKHD1):c.-214G>A rs886061625
NM_138694.4(PKHD1):c.-223G>A rs886061626
NM_138694.4(PKHD1):c.-30A>G rs767584874
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) rs886061613
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) rs886061611
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val) rs747283913
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-5C>T rs886061609
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1234-10T>A rs4715272
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) rs886061622
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856
NM_138694.4(PKHD1):c.1693+10G>A rs886061621
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) rs200918134
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3629-15G>A rs375870003
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=) rs751984319
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.6866-5A>G rs886061617
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.708-4G>A rs748018742
NM_138694.4(PKHD1):c.7110-7T>A rs113034899
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837
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.7307C>T (p.Thr2436Ile) rs147851214
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7734-4T>C rs7452724
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629
NM_138694.4(PKHD1):c.8302+12T>A rs1571084
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881
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.9237G>A (p.Ala3079=) rs765525
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile) rs575058604
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892

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