ClinVar Miner

List of variants in gene PKHD1 reported as benign by Pars Genome Lab

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7486+41C>A rs982874

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