ClinVar Miner

List of variants studied for autosomal recessive polycystic kidney disease by Myriad Genetics, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
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_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter)
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter)
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter)
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter)
NM_138694.4(PKHD1):c.1216del (p.Glu406fs)
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs)
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
NM_138694.4(PKHD1):c.1910del (p.Asn637fs)
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs)
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs)
NM_138694.4(PKHD1):c.2850del (p.Thr951fs)
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter)
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs)
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs)
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs)
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter)
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs)
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs)
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs)
NM_138694.4(PKHD1):c.349del (p.Ser117fs)
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs)
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs)
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs)
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs)
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs)
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs)
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter)
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs)
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs)
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs)
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
NM_138694.4(PKHD1):c.453del (p.Lys151fs)
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs)
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs)
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs)
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer)
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs)
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs)
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs)
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs)
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs)
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs)
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs)
NM_138694.4(PKHD1):c.661del (p.Tyr221fs)
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs)
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs)
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs)
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs)
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs)
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter)
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter)
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter)
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter)
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs)
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs)
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs)
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs)
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs)
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs)
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs)
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs)
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter)
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter)
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter)
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs)
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs)
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs)
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs)

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.