ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP
NC_000006.12:g.52087625T>G
NM_138694.4(PKHD1):c.*1001A>G
NM_138694.4(PKHD1):c.*1005C>T rs41273716
NM_138694.4(PKHD1):c.*1023G>A rs185962129
NM_138694.4(PKHD1):c.*1027G>A
NM_138694.4(PKHD1):c.*1083G>T rs376414551
NM_138694.4(PKHD1):c.*1130C>T
NM_138694.4(PKHD1):c.*1154A>G rs548889112
NM_138694.4(PKHD1):c.*1217G>A rs886061605
NM_138694.4(PKHD1):c.*1244G>A
NM_138694.4(PKHD1):c.*1257G>A rs886061604
NM_138694.4(PKHD1):c.*1335T>C rs886061603
NM_138694.4(PKHD1):c.*1376A>G rs886061602
NM_138694.4(PKHD1):c.*1381G>C rs573219087
NM_138694.4(PKHD1):c.*1450T>A
NM_138694.4(PKHD1):c.*1492_*1497del rs886061601
NM_138694.4(PKHD1):c.*1589T>G rs886061600
NM_138694.4(PKHD1):c.*1592T>C
NM_138694.4(PKHD1):c.*1596C>T
NM_138694.4(PKHD1):c.*1597G>A rs116233809
NM_138694.4(PKHD1):c.*1749C>T rs886061599
NM_138694.4(PKHD1):c.*1789G>A rs763964515
NM_138694.4(PKHD1):c.*1933G>A rs886061598
NM_138694.4(PKHD1):c.*1T>C
NM_138694.4(PKHD1):c.*2031A>G rs886061597
NM_138694.4(PKHD1):c.*220A>G rs751649423
NM_138694.4(PKHD1):c.*2304_*2305insA rs886061596
NM_138694.4(PKHD1):c.*232T>G
NM_138694.4(PKHD1):c.*2443A>G
NM_138694.4(PKHD1):c.*2463C>T
NM_138694.4(PKHD1):c.*2552_*2553dup rs113144792
NM_138694.4(PKHD1):c.*2553dup rs113144792
NM_138694.4(PKHD1):c.*2580C>A rs886061595
NM_138694.4(PKHD1):c.*2665C>A
NM_138694.4(PKHD1):c.*2716C>G
NM_138694.4(PKHD1):c.*27G>A rs764352165
NM_138694.4(PKHD1):c.*2857A>C rs886061594
NM_138694.4(PKHD1):c.*2922T>C rs146856769
NM_138694.4(PKHD1):c.*2967T>A rs41273714
NM_138694.4(PKHD1):c.*2976C>T
NM_138694.4(PKHD1):c.*3030A>G
NM_138694.4(PKHD1):c.*308C>T rs570760306
NM_138694.4(PKHD1):c.*3138G>A
NM_138694.4(PKHD1):c.*3171A>G
NM_138694.4(PKHD1):c.*3269C>A rs886061593
NM_138694.4(PKHD1):c.*3323T>C rs886061592
NM_138694.4(PKHD1):c.*3345T>A rs530251992
NM_138694.4(PKHD1):c.*3379A>G
NM_138694.4(PKHD1):c.*3444G>A rs772732172
NM_138694.4(PKHD1):c.*3505_*3508AATT[1] rs552076092
NM_138694.4(PKHD1):c.*3520T>C rs886061591
NM_138694.4(PKHD1):c.*604C>A
NM_138694.4(PKHD1):c.*760T>G rs886061607
NM_138694.4(PKHD1):c.*780A>G rs886061606
NM_138694.4(PKHD1):c.*822G>A
NM_138694.4(PKHD1):c.*918T>A
NM_138694.4(PKHD1):c.*934G>T rs558281379
NM_138694.4(PKHD1):c.-185A>G
NM_138694.4(PKHD1):c.-214G>A rs886061625
NM_138694.4(PKHD1):c.-223G>A rs886061626
NM_138694.4(PKHD1):c.-30A>G rs767584874
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) rs886061613
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg)
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His)
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe)
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) rs886061611
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val) rs747283913
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg)
NM_138694.4(PKHD1):c.11507-11C>T rs201478327
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-5C>T rs886061609
NM_138694.4(PKHD1):c.11507-8C>T
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr)
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val)
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1234-10T>C
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) rs886061622
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln)
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser)
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856
NM_138694.4(PKHD1):c.1693+10G>A rs886061621
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val)
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg)
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly)
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) rs200918134
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2279+13T>G rs188914598
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2593-3C>T
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys)
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208
NM_138694.4(PKHD1):c.281+13G>A
NM_138694.4(PKHD1):c.282-3C>T rs535210707
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly)
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala)
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala)
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387
NM_138694.4(PKHD1):c.3628+9C>A rs552339299
NM_138694.4(PKHD1):c.3629-15G>A rs375870003
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu)
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val)
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=) rs751984319
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln)
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr)
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp)
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr)
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) rs754333450
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618
NM_138694.4(PKHD1):c.5381-12T>C
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr)
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5601-8C>T rs578030952
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly)
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys)
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser) rs777994980
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe)
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile)
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser)
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr)
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086
NM_138694.4(PKHD1):c.6866-5A>G rs886061617
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.708-4G>A rs748018742
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro)
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057
NM_138694.4(PKHD1):c.7215+13G>T
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg)
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro)
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042
NM_138694.4(PKHD1):c.7733+15C>A
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe)
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=)
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=)
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.4(PKHD1):c.8554+3A>G rs370312392
NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala)
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val)
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln)
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881
NM_138694.4(PKHD1):c.888A>G (p.Pro296=)
NM_138694.4(PKHD1):c.8951-13C>T rs112249812
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635
NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp)
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile) rs575058604
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu)
NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys)
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337

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