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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)	rs1057516577	0.00001
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)	rs1583295819

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