ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic by Blueprint Genetics,

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_138694.3(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.3(PKHD1):c.390+1G>T
NM_138694.3(PKHD1):c.3940delA (p.Ser1314Alafs) rs1057517273
NM_138694.3(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.10144del (p.Phe3382Serfs)
NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn)
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.2279+5G>A
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.7109+3A>C
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.778+1G>C
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)

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