ClinVar Miner

List of variants reported as likely pathogenic for Polycystic liver disease

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Total variants: 11
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HGVS dbSNP
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)
NM_138694.4(PKHD1):c.880+1G>C
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter)
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys) rs1565093675
NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly) rs1565092566
NM_198334.3(GANAB):c.38G>A (p.Arg13Gln) rs1565116806

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