ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Molecular Genetics,Children's Memorial Health Institute

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Total variants: 12
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HGVS dbSNP
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro)
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del)
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg)
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759

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