ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201

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