ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive polycystic kidney disease by Invitae

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Total variants: 97
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HGVS dbSNP
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr)
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys) rs557405366
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) rs1554214687
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro)
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) rs878855202
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) rs1562166222
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr) rs864622533
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) rs775831255
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) rs1554290169
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537
NM_138694.4(PKHD1):c.7911+5C>A rs199953233
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) rs1562410452
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) rs1554263087
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) rs1231976944
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) rs878855204
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)

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