ClinVar Miner

List of variants in gene PKHD1 reported as benign by Department of Pathology and Laboratory Medicine,Sinai Health System

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_138694.3(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478
NM_138694.3(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.3(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227
NM_138694.3(PKHD1):c.1185T>C (p.Asp395=) rs1896976
NM_138694.3(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994
NM_138694.3(PKHD1):c.1234-10T>A rs4715272
NM_138694.3(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.3(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.3(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.3(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096
NM_138694.3(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.3(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.3(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.3(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.3(PKHD1):c.5236+14A>G rs12210725
NM_138694.3(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
NM_138694.3(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.3(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.3(PKHD1):c.7734-4T>C rs7452724
NM_138694.3(PKHD1):c.7764A>G (p.Leu2588=) rs9349603
NM_138694.3(PKHD1):c.8302+12T>A rs1571084
NM_138694.3(PKHD1):c.9237G>A (p.Ala3079=) rs765525

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