ClinVar Miner

List of variants reported as uncertain significance for Polycystic kidney disease 4 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr) rs548244367 0.00003
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489 0.00001
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226 0.00001
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro) rs552199185 0.00001
NM_138694.4(PKHD1):c.10997T>C (p.Ile3666Thr)
NM_138694.4(PKHD1):c.12225A>G (p.Ter4075Trp)
NM_138694.4(PKHD1):c.1262C>G (p.Thr421Ser)
NM_138694.4(PKHD1):c.1448T>A (p.Val483Asp)
NM_138694.4(PKHD1):c.1822G>C (p.Asp608His)
NM_138694.4(PKHD1):c.3614G>A (p.Cys1205Tyr)
NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu) rs1582123954
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser) rs745387993
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu) rs1791757326
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg) rs756915122
NM_138694.4(PKHD1):c.6903G>T (p.Val2301=) rs2127622696
NM_138694.4(PKHD1):c.8387G>A (p.Ser2796Asn)
NM_138694.4(PKHD1):c.8762T>G (p.Val2921Gly) rs2533948940
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile) rs2533916334
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg) rs2533914333
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr) rs2533821673
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg) rs2533776667
NM_138694.4(PKHD1):c.9830-6T>A

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