ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044

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