List of variants reported as pathogenic for autosomal recessive polycystic kidney disease by Laboratory of Molecular Genetics, Children's Memorial Health Institute

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Total variants: 7

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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.5895dup (p.Leu1966fs)	rs746838237	0.00010
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser)	rs1803308145
NM_138694.4(PKHD1):c.390+1G>A	rs752327566
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)	rs774050795
NM_138694.4(PKHD1):c.880+1G>A	rs1582064292
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	rs1554218666

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