ClinVar Miner

List of variants in gene PKHD1 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_138694.3(PKHD1):c.1068dup (p.Asn357Terfs) rs1554219449
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.10856delA (p.Lys3619Serfs) rs1554183235
NM_138694.3(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.3(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.3(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.3(PKHD1):c.1A>G (p.Met1Val) rs376987651
NM_138694.3(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.3(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674
NM_138694.3(PKHD1):c.5895dupA (p.Leu1966Thrfs) rs746838237
NM_138694.3(PKHD1):c.6383delT (p.Leu2128Terfs) rs1405067373
NM_138694.3(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.3(PKHD1):c.7122delT (p.Phe2374Leufs) rs1554289495

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