ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic for Autosomal recessive polycystic kidney disease

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Total variants: 87
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HGVS dbSNP
NC_000006.11:g.(?_51497343)_(51512936_?)del
NC_000006.11:g.(?_51824658)_(51875267_?)del
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) rs1554183559
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) rs1554219449
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) rs780182068
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1233+99_1694-441del
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3907del (p.Val1303fs)
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) rs1325403863
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) rs28937907
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) rs1561921358
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) rs1561920869
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6507_6511del (p.Cys2169_Tyr2171delinsTer)
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722
NM_138694.4(PKHD1):c.7351-1G>C rs1554282540
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8798-2A>T
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) rs137852945
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)

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