ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_138694.4(PKHD1):c.*2208A>G rs2784200
NM_138694.4(PKHD1):c.*2564A>G rs1414504
NM_138694.4(PKHD1):c.*3025C>T rs2771012
NM_138694.4(PKHD1):c.*3026A>G rs2784199
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.*374T>C rs2784201
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.11174+11A>G rs115072237
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994
NM_138694.4(PKHD1):c.1234-10T>A rs4715272
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.4(PKHD1):c.7734-4T>C rs7452724
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370
NM_138694.4(PKHD1):c.8302+12T>A rs1571084
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295

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