ClinVar Miner

List of variants in gene PKHD1 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 70
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HGVS dbSNP
NM_138694.3(PKHD1):c.449-9_449-7delTTC rs545812620
NM_138694.3(PKHD1):c.6333-8_6333-7delTT rs138161138
NM_138694.3(PKHD1):c.8798-23delT rs756671608
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478
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.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11665+40dup rs35521028
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.11878G>A (p.Val3960Ile) rs34548196
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.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807
NM_138694.4(PKHD1):c.1964+17G>T rs201349527
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
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.2168G>T (p.Arg723Leu) rs150597050
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.2407+42T>G rs78918693
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
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.391-43T>A rs116414807
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.527+19T>C rs9474140
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483
NM_138694.4(PKHD1):c.7110-7T>A rs113034899
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755
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.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370
NM_138694.4(PKHD1):c.8174-18T>A rs111383080
NM_138694.4(PKHD1):c.8302+12T>A rs1571084
NM_138694.4(PKHD1):c.8302+18A>G rs12529717
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8798-19A>C rs1326605
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991
NM_138694.4(PKHD1):c.9829+10T>G rs143526199
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323

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