ClinVar Miner

List of variants in gene PKHD1 reported as not provided for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337

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