ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by GeneDx

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Total variants: 6
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NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.6512A>G (p.Tyr2171Cys) rs1554132731
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn) rs1417442108
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563

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