ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.10998del (p.Ile3666fs) rs1554183097
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236

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