ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP
NC_000006.12:g.(?_51632545)_(51648138_?)del
NC_000006.12:g.(?_51959860)_(52010469_?)del
NC_000006.12:g.(?_52053066)_(52054175_?)del
NC_000006.12:g.(?_52055567)_(52055749_?)del
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
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.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter)
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter)
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.134_154delinsAG (p.Leu45_Pro52delinsTer)
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs) rs1581956689
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) rs767737392
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter)
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs)
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter)
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.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs)
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3549del (p.His1184fs)
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.4005del (p.Cys1336fs)
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs)
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter)
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
NM_138694.4(PKHD1):c.525del (p.Asp175fs)
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs) rs1581727260
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
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.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
NM_138694.4(PKHD1):c.6507_6511del (p.Cys2169_Tyr2171delinsTer) rs764409182
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter)
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs)
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
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.7177C>T (p.Gln2393Ter)
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs)
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs) rs1583054534
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs) rs1583053996
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter)
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs)
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs)
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs) rs1582436832
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749

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