ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_138694.3(PKHD1):c.*2564A>G rs1414504
NM_138694.3(PKHD1):c.*3026A>G rs2784199
NM_138694.3(PKHD1):c.*3393C>A rs2784198
NM_138694.3(PKHD1):c.*374T>C rs2784201
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.2278C>T (p.Arg760Cys) rs9370096
NM_138694.3(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.3(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
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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