ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive polycystic kidney disease by Baylor Genetics

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Total variants: 29
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HGVS dbSNP
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581

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