ClinVar Miner

List of variants studied for Polycystic kidney disease, adult type by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.3029A>G (p.Asn1010Ser) rs149041162 0.00003
NM_001009944.3(PKD1):c.8920C>T (p.Arg2974Trp) rs536893844 0.00002
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser) rs776847358 0.00001
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met) rs1301518884 0.00001
NM_001009944.3(PKD1):c.10051-1G>T rs1245329669
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs) rs2091440383
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe) rs2092660360
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs) rs2092538008
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del) rs2092489106
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs) rs754820795
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly) rs2151797664
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter) rs753749502
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) rs2151791178
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly) rs1596553257
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs) rs2151789587
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs) rs1596551138
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
NM_001009944.3(PKD1):c.678G>A (p.Glu226=) rs2092673013
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs) rs2151785622
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.7005G>C (p.Glu2335Asp) rs2092401473
NM_001009944.3(PKD1):c.707del (p.Gln236fs) rs2092672656
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro)
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg) rs2151772458
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs) rs2151766664
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.8378T>A (p.Leu2793Gln) rs2151755543
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys) rs1596526681
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9502T>G (p.Phe3168Val) rs2151742081
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)

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