ClinVar Miner

List of variants studied for polycystic kidney disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.10405+7T>C rs201762369 0.00011
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr) rs1257476353 0.00001
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) rs1295732689 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_181645.4(DEUP1):c.1577C>T (p.Ser526Leu) rs779898555 0.00001
NM_000297.4(PKD2):c.1003C>T (p.Gln335Ter)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.2118+1G>A
NM_000297.4(PKD2):c.2118+1G>T
NM_000297.4(PKD2):c.2387T>G (p.Leu796Ter)
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.697G>A (p.Val233Ile) rs1726679079
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) rs2151728391
NM_001009944.3(PKD1):c.10233G>T (p.Trp3411Cys)
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) rs2151726623
NM_001009944.3(PKD1):c.10419C>G (p.Ile3473Met) rs2091884870
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs)
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11717G>A (p.Cys3906Tyr)
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr)
NM_001009944.3(PKD1):c.1312dup (p.Ala438fs)
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs)
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.2093_2097+2del
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe) rs2092598008
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter)
NM_001009944.3(PKD1):c.340T>G (p.Leu114Val)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.4049C>A (p.Thr1350Lys)
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4183G>A (p.Gly1395Arg)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
NM_001009944.3(PKD1):c.5462C>T (p.Ser1821Phe)
NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5744C>T (p.Ser1915Leu)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs)
NM_001009944.3(PKD1):c.6236T>C (p.Phe2079Ser)
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) rs2151788870
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs)
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys)
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
NM_001009944.3(PKD1):c.7516G>A (p.Ala2506Thr)
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.9058G>A (p.Glu3020Lys)
NM_001009944.3(PKD1):c.9148G>A (p.Ala3050Thr)
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_013338.5(ALG5):c.746C>T (p.Thr249Met)
NM_138694.4(PKHD1):c.10462A>T (p.Asn3488Tyr)
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)
NM_138694.4(PKHD1):c.11495C>A (p.Thr3832Asn)
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) rs1581827172
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs) rs1802018167
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr) rs1810936262
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs) rs2128143028
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) rs1800745257
NM_138694.4(PKHD1):c.5680T>A (p.Cys1894Ser) rs2128117206
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter)
NM_198334.3(GANAB):c.877A>G (p.Met293Val)

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.