List of variants reported as pathogenic for Polycystic kidney disease 4 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00044
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	rs398124478	0.00004
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.3:c.(?_5909)_(12225_?)del

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