ClinVar Miner

List of variants in gene PKHD1 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 17
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HGVS dbSNP
NM_138694.3(PKHD1):c.779-13_779-12delTT rs5876252
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=) rs878852998
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653

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