ClinVar Miner

List of variants in gene PKHD1 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.2716-3C>G rs1057518964
NM_138694.3(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.3(PKHD1):c.370C>T (p.Arg124Ter) rs727504096
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.3(PKHD1):c.5081dupG (p.Val1695Cysfs) rs1057518952
NM_138694.3(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607

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