ClinVar Miner

List of variants reported as likely benign for Autosomal recessive polycystic kidney disease by Illumina Clinical Services Laboratory,Illumina

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Total variants: 17
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HGVS dbSNP
NM_138694.4(PKHD1):c.*2208A>G rs2784200
NM_138694.4(PKHD1):c.*3025C>T rs2771012
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.1234-10T>A rs4715272
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036
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.234C>T (p.Asp78=) rs9474143
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653

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