ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic by OMIM

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Total variants: 9
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NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) rs28937907
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) rs137852945

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