ClinVar Miner

List of variants studied for Autosomal recessive polycystic kidney disease by Myriad Genetics, Inc.

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484

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